Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

American Journal of Human Genetics

Volumn 86, Issue 5, 2010, Pages 789-796

  Uz, Elif ^a   Alanay, Yasemin ^a   Aktas, Dilek ^a   Vargel, Ibrahim ^a,b   Gucer, Safak ^a   Tuncbilek, Gokhan ^a   von Eggeling, Ferdinand ^c   Yilmaz, Engin ^a   Deren, Ozgur ^a   Posorski, Nicole ^c   Ozdag, Hilal ^d   Liehr, Thomas ^c   Balci, Sevim ^a   Alikasifoglu, Mehmet ^a   Wollnik, Bernd ^e   Akarsu, Nurten A ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b KIRIKKALE UNIVERSITY   (Turkey)

^c JENA UNIVERSITY HOSPITAL   (Germany)

^d ANKARA UNIVERSITY   (Turkey)

^e UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARISTALESS LIKE HOMEOBOX 1 TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 4; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 12Q; CLEFT FACE; CLEFT PALATE; CRANIOFACIAL DEVELOPMENT; EMBRYO DEVELOPMENT; FAMILY; FEMALE; FRONTONASAL DYSPLASIA; GENE DELETION; GENE DISRUPTION; GENE MAPPING; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPERTELORISM; HYPOPLASIA; MALE; MICROPHTHALMIA; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

CLEFT PALATE; EAR; FACE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; MICROPHTHALMOS; MUSCULOSKELETAL ABNORMALITIES; MUTATION; PHENOTYPE; RNA SPLICE SITES; SEQUENCE DELETION;

MURINAE;

EID: 77951976826     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.04.002     Document Type: Article

References (32)

1. Sedano H.O., Cohen Jr. M.M., Jirasek J., and Gorlin R.J. Frontonasal dysplasia. J. Pediatr. 76 (1970) 906-913
2. Sedano H.O., and Gorlin R.J. Frontonasal malformation as a field defect and in syndromic associations. Oral Surg. Oral Med. Oral Pathol. 65 (1988) 704-710
3. Hing A.V., Syed N., and Cunningham M.L. Familial acromelic frontonasal dysostosis, autosomal dominant inheritance with reduced penetrance. Am. J. Med. Genet. A. 128A (2004) 374-382
4. Guion-Almeida M.L., and Richieri-Costa A. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: Defining the phenotype. Clin. Dysmorphol. 10 (2001) 81-86
5. Toriello H.V., Radecki L.L., Sharda J., Looyenga D., and Mann R. Frontonasal "dysplasia," cerebral anomalies, and polydactyly, report of a new syndrome and discussion from a developmental field perspective. Am. J. Med. Genet. Suppl. 2 (1986) 89-96
6. Toriello H.V., Higgins J.V., and Mann R. Oculoauriculofrontonasal syndrome: Report of another case and review of differential diagnosis. Clin. Dysmorphol. 4 (1987) 338-346
7. Pai G.S., Levkoff A.H., and Leithiser Jr. R.E. Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. Am. J. Med. Genet. 26 (1987) 921-924
8. Lees M.M., Hodgkins P., Reardon W., Taylor D., Stanhope R., Jones B., Hayward R., Hockley A.D., Baraitser M., and Winter R.M. Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects, a report of six cases. Clin. Dysmorphol. 7 (1998) 157-162
9. Masuno M., Imaizumi K., Aida N., Nishimura G., Kimura J., and Kuroki Y. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies, another observation. Clin. Dysmorphol. 9 (2000) 59-60
10. Gollop T.R., Kiota M.M., Martins R.M.M., Lucchesi E.A., and Alvarenga E. Frontofacionasal dysplasia: Evidence for autosomal recessive inheritance. Am. J. Med. Genet. 19 (1984) 301-305
11. Reardon W., Hockey A., Silberstein P., Kendall B., Farag T.I., Swash M., Stevenson R., and Baraitser M. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am. J. Med. Genet. 52 (1994) 58-65
12. Twigg S.R.F., Kan R., Babbs C., Bochukova E.G., Robertson S.P., Wall S.A., Morriss-Kay G.M., and Wilkie A.O.M. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc. Natl. Acad. Sci. USA 101 (2004) 8652-8657
13. Wieland I., Jakubiczka S., Muschke P., Cohen M., Thiele H., Gerlach K.L., Adams R.H., and Wieacker P. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am. J. Hum. Genet. 74 (2004) 1209-1215
14. Twigg S.R.F., Versnel S.L., Nürnberg G., Lees M.M., Bhat M., Hammond P., Hennekam R.C.M., Hoogeboom A.J.M., Hurst J.A., Johnson D., et al. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am. J. Hum. Genet. 84 (2009) 698-705
15. Kayserili H., Uz E., Niessen C., Vargel I., Alanay Y., Tuncbilek G., Yigit G., Uyguner O., Candan S., Okur H., et al. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum. Mol. Genet. 18 (2009) 4357-4366
16. Meijlink F., Beverdam A., Brouwer A., Oosterveen T.C., and Berge D.T. Vertebrate aristaless-related genes. Int. J. Dev. Biol. 43 (1999) 651-663
17. Holland P.W., Booth H.A.,F., and Bruford E.A. Classification and nomenclature of al human homeobox genes. BMC Biol. 5 (2007) 47
18. Jugessur A., Shi M., Gjessing H.K., Lie R.T., Wilcox A.J., Weinberg C.R., Christensen K., Boyles A.L., Daack-Hirsch S., Trung T.N., et al. Genetic determinants of facial clefting: Analysis of 357 candidate genes using two national cleft studies from Scandinavia. PLoS ONE 4 (2009) e5385
19. Nannya Y., Sanada M., Nakazaki K., Hosoya N., Wang L., Hangaishi A., Kurokawa M., Chiba S., Bailey D.K., Kennedy G.C., et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res. 65 (2005) 6071-6079
20. Zhao G.Q., Eberspaecher H., Seldin M.F., and de Crombrugghe B. The gene for the homeodomain-containing protein Cart-1 is expressed in cells that have a chondrogenic potential during embryonic development. Mech. Dev. 48 (1994) 245-254
21. Zhao Q., Behringer R.R., and de Crombrugghe B. Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. Nat. Genet. 13 (1996) 275-283
22. Chi Y.I. Homeodomain revisited: A lesson from disease-causing mutations. Hum. Genet. 116 (2005) 433-444
23. Zhao G.Q., Zhou X., Eberspaecher H., Solursh M., and de Crombrugghe B. Cartilage homeoprotein1, a homeoprotein selectively expressed in chondrocytes. Proc. Natl. Acad. Sci. USA 90 (1993) 8633-8637
24. Kaufman B.A. Neural tube defects. Pediatr. Clin. North Am. 51 (2004) 389-419
25. Spiegelmann R., Schinder E., Mintz M., and Blakstein A. The human tail: A benign stigma. Case report. J. Neurosurg. 63 (1985) 461-462
26. Dao A.H., and Netsky M.G. Human tails and pseudotails. Hum. Pathol. 15 (1984) 449-453
27. Warburg M., Jensen H., Prause J.U., Bolund S., Skovby F., and Miranda M.J. Anophthalmia-microphthalmia-oblique clefting syndrome: Confirmation of the Fryns anophthalmia syndrome. Am. J. Med. Genet. 73 (1997) 36-40
28. Fryns J.P., Legius E., Moerman P., Vandenberghe K., and Van den Berghe H. Apparently new 'anophthalmia-plus' syndrome in sibs. Am. J. Med. Genet. 58 (1995) 113-114
29. Akalin I., Senses D.A., Ilgin-Ruhi H., Misirlioglu E., Yalciner M., Cetinkaya E., Fryns J.P., and Tukun A. A novel Fryns 'anophthalmia-plus' syndrome associated with primary hypothyroidism. Genet. Couns. 16 (2005) 145-148
30. Ozalp O., Ozcimen E.E., Yilmaz Z., Yanik F., and Sahin F.I. Fryns 'anophthalmia-plus' syndrome with hypoplastic adrenal glands. Genet. Couns. 19 (2008) 43-46
31. Carlson B.M. Human Embryology and Developmental Biology (1994), Mosby-Year Book Inc., St Louis
32. Beverdam A., Brouwer A., Reijnen M., Korving J., and Meijlink F. Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice. Development 128 (2001) 3975-3986