Mutations of a country: A mutation review of single gene disorders in the United Arab Emirates (UAE)

Human Mutation

Volumn 31, Issue 5, 2010, Pages 505-520

  Al Gazali, Lihadh ^a   Ali, Bassam R ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

Arab; Database; Dysmorphology; UAE

Indexed keywords

DYSKERIN; VERY LOW DENSITY LIPOPROTEIN RECEPTOR;

ALPHA THALASSEMIA; ANORECTAL MALFORMATION; APLASIA; BETA THALASSEMIA; BONE DEFORMATION; BONE DYSPLASIA; BRAIN MALFORMATION; CEREBELLUM HYPOPLASIA; CLINICAL FEATURE; CONGENITAL ANALGESIA; CORPUS CALLOSUM; CUTIS LAXA; CYSTIC FIBROSIS; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; DYSKERATOSIS CONGENITA; EEC SYNDROME; EHLERS DANLOS SYNDROME; ELLIS VAN CREVELD SYNDROME; EPIDERMOLYSIS BULLOSA; EYE DISEASE; FOOT MALFORMATION; FRASER SYNDROME; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HAND MALFORMATION; HEARING IMPAIRMENT; HEMOGLOBINOPATHY; HUMAN; HYPOPLASIA; ICHTHYOSIS; JOUBERT SYNDROME; KIDNEY AGENESIS; KIDNEY DISEASE; LEPRECHAUNISM; MACROCEPHALY; MECKEL SYNDROME; METABOLIC DISORDER; MICROCEPHALY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; SICKLE CELL ANEMIA; SKIN DISEASE; SPASTIC PARAPLEGIA; UNINDEXED SEQUENCE; UNITED ARAB EMIRATES; WEBBED NECK;

AFRICA; CONGENITAL ABNORMALITIES; CONSANGUINITY; EUROPE; GENETIC DISEASES, INBORN; GENETICS, POPULATION; GENOTYPE; HEMATOLOGIC DISEASES; HUMANS; MUTATION; PREVALENCE; UNITED ARAB EMIRATES;

EID: 77951870392     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21232     Document Type: Review

References (115)

1. Abdulla MM. 1978. The United Arab Emirates: a modern history. New York: Harper and Row. p. 221-243.
2. Abdulrazzaq YM, Ibrahim A, Al-Khayat AI, Nagelkerke N, Ali BR. 2009. R58fs Mutation in the HGD gene in a family with alkaptonuria in the UAE. Ann Hum Genet 73:125-130.
3. Abdulrazzaq YM, Micallef R, Qureshi MM, Dawodu A, Ahmed I, Khidr A, Bastaki SMA, Al-Khayat AI, Bayoumi RA. 1999. Diversity in expression of glucose-6-phosphate dehydrogenase deficieny in females. Clin Genet 55:13-19. (Pubitemid 29067306)
4. Agarwal A, Simha V, Arioglu Oral E, Gordon P, O'Rahilly S, Zaidi Z, Gurakan F, Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, Patel S, Al-Gazali L, Garg A. 2003. Pheotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab 88:4840-4847. (Pubitemid 37357534)
5. Ahuja Y, Kohl S, Traboulsi EI. 2008. CNGA3 mutations in two United Arab Emirates families with achromatopsia. Mol Vision 14:1293-1297. (Pubitemid 352025121)
6. Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS. 2009. FREM1 mutations cause Bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet 85:414-418.
7. Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC. 2009. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet 41:1272-1274.
8. Alef T, Torres S, Hausser I, Metze D, Tursen U, Lestringant GG, Hennies HC. 2009. Ichthyosis, follicular atrophoderma and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol 129:862-869.
9. Al-Gazali L, Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinoval D. 1996a. Neonatal Schwartz-Jampel syndrome: a common AR syndrome in the UAE population. J Med Genet 33:203-211.
10. Al-Gazali LI. 1998. A genetic aetiological survey of severe childhood deafness in the United Arab Emirates. J Trop Paediatr 44:157-160.
11. Al-Gazali LI. 2005. Attitudes towards genetic counseling in the United Arab Emirates. Community Genet 8:48-51.
12. Al-Gazali LI, Al Talabani J. 1996. Setleis Syndrome: autosomal recessive or autosomal dominant inheritance. Clin Dysmorphol 5:249-254.
13. Al-Gazali LI, Alwash R, Abdulrazzaq YM. 2005. United Arab Emirates: communities and community genetics. Community Genet 8:186-196. (Pubitemid 41197104)
14. Al-Gazali LI, Bakalinova D. 1998. Autosomal recessive syndrome of macrocephaly multiple epiphyseal dysplasia and distinctive facial appearance. Clin Dysmorphol 7:177-184. (Pubitemid 28317444)
15. Al-Gazali LI, Bakalinova D, Sztriha L. 1996b. Spondylo metaepiphyseal dysplasia abnormal calcification type. Clin Dysmorphol 5:197-206. (Pubitemid 26267170)
16. Al-Gazali LI, Bakir M, Hamud OA, Gerami S. 2002. An autosomal recessive syndrome of nasal anomalies associated with renal and ano-rectal malformations. Clin Dysmorphol 11:33-38. (Pubitemid 34088057)
17. Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghese M, Haas D, Bener A, Padmanabhan R, Abdulrazzaq YM, Dawodu A. 2003a. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population. Birth Defects Res 125(Part A):125-132. (Pubitemid 38222005)
18. Al-Gazali LI, Bener A, Abdulrazzaq YM, Micallef R, Al-Kayat AI, Gaber T. 1997. Consanguineous marriages in the United Arab Emirates. J Biosoc Sci 29: 491-497. (Pubitemid 27443360)
19. Al-Gazali LI, Dawodu AH, Sabarinathan K, Varghese M. 1995a. The profile of congenital abnormalities in UAE population. J Med Genet 32:7-13.
20. Al-Gazali L, Hamammy H, al-Arrayad S. 2006. Genetic disorders in the Arab world. BMJ 333:831-834.
21. Al-Gazali LI, Hertecant J, Ahmed R, Khan NA, Padmanabhan R. 2003b. Further delineation of Hennekam syndrome. Clin Dysmorphol 12:227-232.
22. Al-Gazali L, Jehier K, Nazin B, Abtin F, Haas D, Sadagahatian R. 2003c. Further delineation of Raine syndrome. Clin Dysmorphol 12:89-94.
23. Al-Gazali LI, Khalil M, Devadas K. 1993. A syndrome of insulin resistance resembling Leprechaunism in five sibs of consanguineous parents. J Med Genet 30:470-475. (Pubitemid 23197264)
24. Al-Gazali LI, Makia S, Azzam A, Hall C. 1995b. Walcott-Rallison Syndrome. Clin Dysmorphol 4:227-234.
25. Al-Gazali LI, Ravenscroft A, Feng A, Shubber A, Al-Saqqaf A, Haas D. 2003d. Stuve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. Clin Dysmorphol 12:1-8.
26. Al-Gazali LI, Sztriha L, Dawodu A, Bakir M, Varghese M, Varady E, Scorer J, Abdulrazzaq YM, Bener A, Padmanabhan R. 1999. Pattern of central nervous system anomalies in a population with a high rate of consanguineous mattiages. Clin Genet 55:95-102. (Pubitemid 29110269)
27. Al-Gazali LI, Sztriha L, Sakaff F, Hass D. 2001. Gerodermia osteodysplatica and wrinkly skin syndrome: are they the same. Am J Med Genet 101:213-220. (Pubitemid 32565697)
28. Al-Hosani H, Osman HM, Riad MS. 2008. Evaluation of the national neonatal screening program in UAE (1995-2007). The 2nd Al-Ain International Genetics Conference, Oral Abstract 43, p. 29, 28-30 October 2008, Al-Ain, UAE.
29. Ali BR, Akawi NA, Chedid F, Bakir M, Ur Rehman M, Rahmani A, Al-Gazali L. 2010. Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. BMC Med Genet 11:33.
30. Ali BR, Hertecant J, Al-Jasmi F, Hamdan M, Al-Gazali L. 2010. Mutational analysis of a spectrum of inborn errors of metabolism disorders from the United Arab Emirates. (in preparation).
31. Allegra M, Gagnoux-Palacios, Gache Y, Roques S, Lestringant G, Ortonne J, Meneguzzi G. 2003. Rapid decay of alpha 6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia. J Invest Dermatol 121:1336-1346. (Pubitemid 38005482)
32. Al-Talabani J, Shubbar AI, Mustafa KE. 1998. Major congenital malformations in United Arab Emirates (UAE): need for genetic counselling. Ann Hum Genet 62:411-418.
33. Alwash R, Abbas A. 1999. Public health practice in UAE. Public Health Med 1:113-117.
34. Al-Yahyaee S, Al-Gazali LI, Al-Barwany H, Al-Kindi M, Chand P, Khoul R, Poovathor J, Guru Raj A, Sztriha L, Parrado A, Ott J, De Jonghe P, Van Broeckhoven C, Timmerman V, Bayoumi RA. 2006. A novel locus for autosomal recessive hereditary paraplegia with thin corpus callosum and epilepsy. Neurology 66:1230-1234.
35. Annual Report. 2002. Ministry of Health, United Arab Emirates.
36. Bartels CF, Bukulmez H, Padayatti P, Rhee DK, Ravenswaaiji-Arts CV, Pauli RM, Mundlos S, Chitayat D, Shih L, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, KirkJ, Mortier GR, Akker FVD, Warman ML. 2004. Human skeletal growth is regulated by transmembrane natriuretic peptide receptor NPR-B. Am J Hum Gene 75:27-34.
37. Bayoumi R, Saar K, Nurnberg G, Reis A, Nur-E-Kamal M, Al-Gazali LI. 2001. Localization of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED) and distinctive facies to chromosome 15q26. J Med Genet 38:369-373.
38. Bayoumi RA, Nur-E-Kamal MSA, Tadayyon M, Mohamed KKA, Mahboob BH, Qureshi MM, Lakhani MG, Ausiad MO, Kaeda J, VullamyTJ, Luzzatto L. 1996. Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Al Ain District, United Arab Emirates. Hum Hered 46:136-141.
39. Baysal E. 2001. Hemoglobinopathies in the United Arab Emirates. Hemoglobin, 25:247-253.
40. Baysal E. 2005. Molecular heterogeneity of b thalassemia in the United Arab Emirates. Community Genet 8:35-39.
41. Baysal E, Yousef I, Zeinali M, Abdulla H, Essa M, Taleb M. 2007. Molecular basis of haemoglobinopathies in the UAE: implication for prenatal diagnosis and prevention programmes. Em Med J 25:7-21.
42. Bhuiyan ZA, Hamdan M, Shamsi E, Postma AV, Mannens MM, Wilde A, Al-Gazali L. 2007. A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. J Cardiovasc Electrophyiol 8:1060-1066.
43. Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki M, Rosti O, Kayserili H, Scott LC, Field SJ, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies. Nat Genet 41:1032-1036.
44. Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn D, Wolson DI, Hanley NA. 2003. Wolcott-Rallison syndrome: pathogenic insight into neonatal diabetes from new mutation and expression studies of ELF2Ak3. J Med Genet 40:685-689.
45. Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, Al-Gazali LI, Markham AF, Lench NJ, Mueller RF. 1997. A new locus for non-syndromal autosomal recessive sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. J Med Genet 34:1015-1017.
46. Chavala SH, Sari A, Lewis H, Pauer GJT, Simpson E, Hagstrom SA, Traboulsi EIT. 2005. An Arg311GIN NR2E3 mutation in a family with classic Goldmann-Favre syndrome. Invest Ophthalmol Vis Sci 46:E-abstract 1824.
47. Christianson A, Modell B, Howson C. 2006. March of Dimes global report on birth defects: the hidden toll of dying and disabled children. White Plains, NY: March of Dimes Birth Defects Foundation.
48. Cordelho O, Cox J, Nicholas AK, Al-Gazali L, Woods CG. 2009. The nociceptive and immune defiecient phenotype caused by NGF mutation. (Submitted).
49. Dagoneau N, Bellais S, Blanchet P, Srda P, Al-Gazali L, Di Rocco M, Huber C, Le Goff, Munnich A, Cormier-Daire V. 2007. Mutations in ctytokine-like factor 1 (CRLF1) account for both crisponi and cold induced sweating syndromes. Am J Hum Genet 80:966-970.
50. Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Marrinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin J, Moreau J, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. 2004. Null Leukemia Inhibitory Factor Receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel 2 syndrome. Am J Hum Genet 74:298-305.
51. Dawodu A, Vardy E, Varghese M, Al-Gazali LI. 2000. Neonatal audit in the United Arab Emirates: a country with rapidly developing economy. East Mediterr Health J 6:55-64.
52. Dawson KP, Frossard PM. 2000. The geographic distribution of cystic fibrosis mutations gives clues about population origins. Eur J Paediatr159:496-499.
53. Dawson KP, Frossard PM, Al-Awar B. 2001. Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T→G). East Mediterr Health J 7:975-980.
54. Desnick RJ, Tukel T, Diaz N, Al-Gazali LI, Marion RW, Clark RD, Cadilla C. 2004. Homozygous nonsense mutations in TWIST2 gene cause Setleis syndrome. Am Hum Genet Meeting, Toronto.
55. Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari A A, Kayserili H, Sztriha L, Gleeson GG. 2004. Mutations in the AHI1 gene, encoding Jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 75:979-987.
56. Eckl KM, Stevens HP, Lestringant G, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nurnberg P, Reis A, Hennies HC. 2003. Mal de Meleda caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet 112:50-56.
57. El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali L, Verloes A, Le Merrer M, Munnich A, Trembath R, Cormier-Daire V. 2003. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchoir-Clausen Syndrome. HumMol Genet 12:357-364.
58. El-Kalla S, Baysal E. 1998. Alpha thalassemia in the United Arab Emirates. Acta Haematol 100:49-53.
59. Faivre L, Le Merrer M, Al-Gazali L, Ausems M, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V. 2003. Homozygosity mapping of a Des Buquois dysplasia locus to chrosome 17q25.3. J Med Genet 40:282-284.
60. Frossard P, Hertecant J, Bossard Y, Dawson KP. 1999a. Genotype-phenotype correlations in cystic fibrosis: clinical severity of mutation S549R (T>G). Eur Respir J 13:100-102.
61. Frossard P, Lestringant G, Girodon E, Goossens M, Dawson. 1999b. Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening. Clin Genet 55:496-497.
62. Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, D'Azzo A. 2004. Four novel mutations in patients from the middle east with infantile form of GM1-gangliosidosis. Hum Mutat 24:352.
63. Guinta C, Randolph A, Al-Gazali L, Brunner HG, Kraenzlin ME. 2005. Nevo syndrome is allelic to the kyphoscoliotic type of EDSVIA. Am J Med Genet 133A:158-164.
64. Hamdan MA, Almalik MH, Mirghani HM. 2008. Early administration of enzyme replacement therapy for Pompe disease: short term follow up results. J Inherit Metab Dis (JIMD Short Report ]140 Online. DOI 10.1007/s10545-008-1000-0).
65. Heard-Bay F. 1976. The people of the UAE. Em Nat Hist Group (Abu Dhabi) 5:11-15.
66. Heard-Bay F. 1999. The tribal society of the UAE and its traditional economy. In Gareeb E, Al Abed I, editors. Perspectives on the UAE. London: Trident Press Ltd. p 254-272.
67. Hennekam RCM, Geerdink RA, Hamel BCJ, Hennekam FAM, Kraus P, Rammeloo JA. 1989. Autosomal recessive intestinal lymphangiectasia and lymphedema with facial anomalies and mental retardation. Am J Med Genet 34:593-600.
68. Hertecant JL, Al-Gazali LI, Karuvantevida NS, Ali BR. 2009. A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family. Saudi Med J 30:1601-1603.
69. Hone J, Acillin D, Al-Gazali LI, Lestringant GT, Orban T, Taylor S. 1994. Homozygosity for a new mutation Ile. 119 - met in the insulin receptor gene in 5 siblings with familial insulin resistance. J Med Genet 9:715-717.
70. Horita S, Yamada H, Inatomi J, Moriyama N, Sekine T, Igarashi T, Endo Y, dasouki M, Ekim M, Al-Gazali L, Shimadzu M, Seki G, Fujita T. 2005. Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. J Am Soc Nephrol 16:2270-2278.
71. Houseman MJ, Jackson AP, Al-Gazali LI, Badin RA, Roberts E, Mueller RF. 2001. A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupt the newly characterized OTOF long isoform. J Med Genet 38:E25.
72. Huber C, Oulès B, BertoliM, Chami M, FradinM, Alanay Y, Al-Gazali LI, AusemsMG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Bréchot P, Munnich A, Cormier-Daire V. 2009. Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet 85:706-710.
73. Kantarci S, Al-Gazali L, Hill R, Donnai D, Black G, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, MacLaughlin DT, Noonan K, Russell M, Walsh C, Donahoe PK, Pober B. 2007. Mutations in megalin, a multiligand receptor, cause Donnai-Barrow syndrome and facio-oculo-acoustic- renal syndromes. Nat Genet 39:957-959.
74. Lestringant G, Akel S, Qayed K. 1992a. The pyloric atresia-junctional epidermolysis bullosa syndrome. Arch Dermatol 128:1083-1086.
75. Lestringant GG, Hadi SM, Qayed KI, Blayney BJ. 1992b. Mal de Meleda: recessive transgressive palmoplantar keratoderma with three unusual facultative features. Dermatology 184:78-82.
76. Lestringant GG, Frossard PM, Adeghate E, Qayed KI. 1997. Mal de Meleda: a report of four cases from the United Arab Emirates. Pediatr Dermatol 14:186-191.
77. Lestringant GG, Kuster W, Frossard PM, Happle R. 1998. Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? Am J Med Genet 75:186-189.
78. Mardy S, Miru Y, Endo F, Mastsuda I, Sztriha L, Frossard P, Moosa A, Imail E A R, Macaya A, Andria G, Toscano E, Gibson W, Graham G E, Indo Y. 1999. Congenital insensitivity to pain with anhydrosis: novel mutations in the TRKA (NTRK1) gene encoding a high affinity receptor for nerve growth factor. Am J Hum Genet 64:1570-1579.
79. Matejas V, Al-Gazali L, Amirlak I, Zenker M. 2006. A syndrome comprising childhood-onset glomerular kidney disease, cataract, anterior chamber abnormalities, and progressive loss of vision is caused by mutated LAMB2. NDT Nephrol Dial Transplant. 21:3283-3286.
80. Mohammed AM, Al-Hilli F, Nadkarni KV, Bhagwat GP, Bapat JP. 1992. Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in hospital births in Bahrain. Ann Saudi Med 12:536-539.
81. Morgan N, Brueton L, Cox P, Greally M, Tolmi J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JEV, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER. 2006. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and escobar variants of multiple pterygium syndromes. Am J Hum Genet 79:390-392.
82. Nakano A, Lestringant G, Paperna T, Bergman R, Greshoni R, Frossard P, Kanaan M, Meneguzzi G, Pulkkinen L, Sprecher E. 2002. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol 46:510-516.
83. Naveed M, Al-Ali MT, Murthy SK, Al-Hajali S, Al-Khaja N, Deutsch S, Bottani A, Antonarakis SE, Nath SK, Radhakrishna U. 2006. Ectrodactyly with aplasia of long bones (MIM119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. Am J Med Genet A. 140:1440-1446.
84. Naveed M, Nath SK, Gaines M, Al-Ali MT, Al-Khaja N, Hutchings D, Golla J, Deutsch S, Bottani A, Antonarakis SE, Ratnamala U, Radhakrishna U. 2007. Genome wide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. Am J Hum Genet 80: 105-111.
85. Pulleyn LJ, Jackson AP, Roberts E, Carridice A, Muxworthy C, Houseman M, Al- Gazali LI, Lench NJ, Markham AF, Mueller RF. 2000. A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31. Eur J Hum Genet 8:991-993.
86. Quaife R, Al-Gazali LI, Abbes S, Fitzgerald P, Old J. 1994. Spectrum of B thalassemia mutations in the UAE national population. J Med Genet 34:59-61.
87. Ramahi SA. 1973. Economic and political evolution in the Arabian Gulf States. New York: Carlton Press. p 42, 45, 57, 81, 203.
88. Rauch A, Theil CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen Aj, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dorfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, VoB E, Wilson L, Hennekam R, de Zegher F, Dorr HG, Reis A. 2008. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319:816-819.
89. Raupp P, Varady E, Duran M, Wanders RJ, Waterham HR, Houten SM. 2004. Novel genotype of mevalonic aciduria with fatalities in premature siblings. Arch Dis Child Fetal Neonatal Ed 89:F90-F91.
90. Reversade B, Escandle-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor B, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Guerra D, Ferrari P, Nando A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, HauBer I, Budde B, Nunberg P, Seeman P, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollink B, Maldergem LV, Mundlos S, Kornak U. 2009. Mutations in the PYCR1 gene cause Cutis Laxa with progeroid features. Nat Genet 41:1016-1021.
91. Safa WF, Lestringant GG, Frossard PM. 2001. X-linked dyskeratosis congenital:restrictive pulmonary disease and a novel mutation. Thorax 56:891-894.
92. Saleheen D, Frossard PM. 2006. 312011 G-A: a rare variant in Emirati CF patients. J Coll Phys Surg Pak 16:139-140.
93. Saleheen D, Frossard PM, Girodon E. 2006. [3120+1kbdel8.6 kb]+[p.N1303K] genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs. J Ayub Med Med Coll Abbottabad 18:69-71.
94. Sander CS, Salman N, van Geel M, Broers JL, Al-Rahmani A, Chedid F, Hausser I, Oji V, Al Nuaimi K, Berger TG, Verstraeten VL. 2008. A newly identified splice site mutation in ZMPSTE24 causes dermatopathy in the Middle East. Br J Dermatol 159:961-967.
95. Sheffield VC, Stone EM, Carmi R. 1998. Use of isolated inbred human populations for identification of disease genes. Trends Genet 14:391-396.
96. Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crsby AH. 2007. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet 81:906-912.
97. Simsek M, Al-Gazali L, Al-Mjeni R, Bayoumi R. 2003. Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (HGFR3) gene that causes type 1 thanatophoric dysplasia. Clin Biochem 36:151-153.
98. Smith UM, Tee JT, Consugar M, Tee LJ, McKee BM, Maina E, Whelan S, Morgan NV, Gissen P, Goranson E, Aligianis IA, Lilliquist S, Ward CJ, Pasha S, Sharif SM, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Punyashthiti R, Cox P, AlGazali L, Trembath RC, Torres VE, Kelly DA, Attie-Bitach T, Maher ER, Gattone VH, Harris PC, Johnson CA. 2006. Meckelin (MKS3), a novel transmembrane protein is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet 38:191-196.
99. Sztriha L, Espinosa-Parrilla Y, Gururaj A, Amiel J, Gerami S, Johansen JG. 2003. Frameshift mutation of the zinc finger homeo box 1 gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). Neuropediatrics 34:322-325.
100. Sztriha L, Frossard P, Hofstra RM, Verlind E, Nork M. 2000. Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis and hydrocephalus. J Child Neurol 15:239-243.
101. Sztriha L, Lestringant GG, Hertecant J, Frossard PM, Masouye I. 2001. Congenital insensitivity to pain with anhydrosis. Pediatr Neurol 25:63-66.
102. Taban M, Memoracion-Peralta DSA, Wang H, Al-Gazali L, Traboulsi EI. 2007. Cohen syndrome: report of nine cases and review of the literature with emphasis on ophthalmic features. J AAPOS 11:431-437.
103. Tadmouri GO, Al Ali MT, Al Khaja N. 2004. Genetic disorders in the Arab world, United Arab Emirates. Sheikh Hamda Award for Medical Sciences publication Vol. 1.
104. Tadmouri GO, Al Ali MT, Al Khaja N. 2006a. Genetic disorders in the Arab world, Bahrian. Sheikh Hamda Award for Medical Sciences publication Vol. 2.
105. Tadmouri GO, Al Ali MT, Al Khaja N. 2008. Genetic disorders in the Arab world, Oman. Sheikh Hamda Award for Medical Sciences publication Vol. 3.
106. Tadmouri GO, Al Ali MT, Al-Haj Ali S, Al Khaja N. 2006b. CTGA: the database for genetic disorders in Arab populations. Nucleic Acids Res 34(Database issue):D602-D606.
107. Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al Khaja N, Hamamy HA. 2009. Consanguinity and reproductive health among Arabs. Reprod Health 6:17
108. Teebi AS. 1994. Autosomal recessive disorders among Arabs: an overview from Kuwait. J Med Genet 31:224-233.
109. Teebi A, Al-Saleh QA, Odeh H 1992. Meckel syndrome and eural tube defects in Kuwait regional hospital. J Med Genet. 29:140.
110. Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA. 2007. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet 120:663-670.
111. Valente EM, Silhavy JL, Brancati F, Marsh SE, Barrano G, Krishnaswami SR, Castori M, Boltshauser, Boccone L, Al-Gazali L, Fazzi E, Bellaccchio E, Signorini S, Bertini E, Dallapiccola B, Gleeson JG. 2006. Mutations in the CEP290 gene, encoding a putative centosomal protein, cause pleotropic forms of Joubert Syndrome. Nat Genet 38:623-625.
112. van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K, Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ. 2008. Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet 146A:2252-2257.
113. White JM, Christie BS, Nam D, Daar S, Higg DR. 1993. Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis. J Med Genet 30:396-400.
114. Woods CG, Person S, Sherridan E, Roberts E, Springell K, Scott S, Stern R, Cox J, Karbani G, Malik S, Toombes C, Kumar D, Al-Gazali L, Mundlos S. 2006. Mutations in WNT7A cause a range of limb malformations including Furhman-syndrome and Al Awadi/Raas Rothchild/Schnzil phocomelia syndrome. Am J Hum Genet 79:402-409.
115. Zlotogora J, van Baal S, Patrinos GP. 2007. Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database. Hum Mutat 28:944-949.