Fragile X syndrome: A clinico-genetic study of mentally retarded patients in Kuwait

Eastern Mediterranean Health Journal

Volumn 10, Issue 1-2, 2004, Pages 116-124

  Bastaki, L A ^a   Hegazy, F ^a   Al Heneidi, M M ^a   Turki, N ^a   Azab, A S ^b   Naguib, K K ^a  

^a Kuwait Medical Genetics Centre   (Kuwait)

^b ADAN HOSPITAL   (Kuwait)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BLOOD SAMPLING; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; FACE MALFORMATION; FRAGILE X SYNDROME; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; INTELLIGENCE QUOTIENT; KUWAIT; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDY; SEIZURE; TESTIS DISEASE;

AGE FACTORS; BLOTTING, SOUTHERN; CYTOGENETICS; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC SCREENING; HUMANS; INCIDENCE; KUWAIT; MALE; MENTAL RETARDATION; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PREVALENCE; PROSPECTIVE STUDIES; PUBERTY; RNA-BINDING PROTEINS; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX; TIME FACTORS; WECHSLER SCALES;

EID: 23844444826     PISSN: 10203397     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Iqbal MA et al. Cytogenetic diagnosis of fragile X syndrome: study of 305 suspected cases in Saudi Arabia. Annals of Saudi medicine, 2000, 20:214-7.
2. Murray A et al. Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers. Human molecular genetics, 1996, 5:727-35.
3. Turner G et al. Prevalence of fragile X syndrome. American journal of medical genetics, 1996, 64:196-7.
4. De Vries BB et al. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X study group. American journal of human genetics, 1997, 61:660-7.
5. Fryns JP. X-linked mental retardation and the fragile X syndrome: a clinical approach In: Davies KE, ed. The fragile X syndrome. Oxford, Oxford University Press, 1989.
6. Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Cronister A, eds. Fragile X syndrome: diagnosis, treatment and research. Baltimore, Johns Hopkins University Press, 1996.
7. McKusick VA, Francomano CA, Antonarakis SE. Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes, 9th ed. Baltimore, Johns Hopkins University Press, 1990.
8. Verkerk AJ et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 1991, 65:905-14.
9. Morton JE et al. Fragile X syndrome is less common than previously estimated. Journal of medical genetics, 1997, 34: 1-5.
10. Crawford DC et al. Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. American journal of human genetics, 1999, 64:495-507.
11. Crawford DC et al. Prevalence of the fragile X syndrome in African-Americans. American journal of medical genetics, 2002, 110:226-33.
12. Jacobs PA, Mayer M, Abruzzo MA. Studies of the fragile (X) syndrome in mentally retarded populations in Hawaii. American journal of medical genetics, 1986, 23:567-72.
13. Tayel S et al. Two step fragile X screening programme in mentaily retarded males. Kuwait medical journal, 1999, Sept.: 257-62.
14. Kluger G et al. Epilepsy and fragile X gene mutations. Pediatric neurology, 1996, 15:358-60.
15. Curfs LM, Wiegers AM, Fryns JP. Intelligence and the fra(X) syndrome: a review. Genetic counseling, 1991, 2:55-62.
16. De Vries BB et al. Clinical and molecular studies in fragile X patients with Prader-Willi like phenotype. Journal of medical genetics, 1993, 30:761-6.
17. Mostofsky S et al. Decreased cerebellar posterior vermis size in fragile X syndrome: correlation with neurocognitive performance. Neurology, 1998, 50:121-30.
18. Mazzocco MM et al. The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay. Journal of pediatrics, 1998, 132:795-801.
19. Teague J et al. FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability. Proceedings of the National Academy of Sciences of the United States of America, 1998, 95:719-24.
20. Mila M et al. Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation. Human genetics, 1997, 100: 503-8.
21. Sherman S. Epidemiology. In: Hagerman RJ, Silverman AD, eds. Fragile X syndrome. Baltimore, Johns Hopkins University Press, 1991:69-97.
22. De Vries BB et al. Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. Journal of medical genetics, 1996, 33:1007-10.
23. Smeets H et al. Normal phenotype in two brothers with full FMR1 mutation. Human molecular genetics, 1995, 4:2103-8.
24. Sutherland G, Mulley J. Fragile-X syndrome and other causes of X-linked mental handicap. In: Rimoin D, Conner M, Pyeritz R, eds. Principles and practice of medical genetics, 3rd ed. New York, Churchill Livingstone, 1997:1745-55.
25. Klauck SM et al. Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients. Human genetics, 1997, 100:224-9.
26. Pembrey M, Winter R, Davies K. A permutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. American journal of medical genetics, 1985, 21: 709-17.
27. Richards RI, Sutherland GR. Dynamic mutations: A new class of mutations causing human disease. Cell, 1992, 70:709-12.
28. Reiss AL et al. Frequency and stability of the fragile X premutation. Human molecular genetics, 1994, 3:393-8.
29. Rousseau F et al. Prevalence of carriers of permutation-size alleles of the FMR1 gene - and implications for the population genetics of the fragile X syndrome. American journal of human genetics, 1995, 57:1006-18.
30. Zhong N et al. Fragile X founder effects and new mutations in Finland. American journal of medical genetics, 1996, 64: 226-33.
31. Wohrle D et al. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nature genetics, 1993, 4:140-2.
32. Reyniers E et al. The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nature genetics, 1993, 4:143-6.
33. Malter HE et al. Characterization of the full fragile X syndrome mutation in fetal gametes. Nature genetics, 1997, 15: 165-9.
34. Oostra BA et al. Guidelines for the diagnosis of fragile X syndrome. Fragile X Foundation. Journal of medical genetics, 1993, 30:410-3.
35. Wang Q et al. Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome. Lancet, 1993, 342:1025-6.
36. Willemsen R et al. Rapid antibody test for fragile X syndrome. Lancet, 1995, 345: 1147-8.
37. Willemsen R et al. Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal. Journal of medical genetics, 1997, 34: 250-1.
38. De Vries BB et al. Screening for the fragile X syndrome among the mentally retarded: a clinical study, The Collaborative Fragile X Study Group. Journal of medical genetics, 1999, 36:467-70.