Prenatal diagnosis of the fragile X syndrome: Loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus

Journal of Medical Genetics

Volumn 34, Issue 11, 1997, Pages 924-926

  Losekoot, Monique ^a,e   Hoogendoorn, Ed ^a   Olmer, Renske ^a   Jansen, Carola C A M ^b   Oosterwijk, Jan C ^c,f   Van Den Ouweland, Ans M W ^b   Halley, Dicky J J ^b   Warren, Stephen T ^d   Willemsen, Rob ^b   Oostra, Ben A ^b   Bakker, Egbert ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e Department of Human Genetics ^*  (Netherlands)

^f UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

FMR1 gene; FMR1 protein; Loss of mutation

Indexed keywords

ARTICLE; CHORION VILLUS SAMPLING; CONTROLLED STUDY; DNA DETERMINATION; EXON; FETUS; FRAGILE X SYNDROME; GENE CONVERSION; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MALE; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; SILENT GENE; SOUTHERN BLOTTING; X CHROMOSOME LINKAGE;

EID: 16944367290     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.11.924     Document Type: Article

References (15)

1. Turner G. Finding genes on the X chromosome by which homo may have become sapiens. Am J Hum Genet 1996;58:1109-10.
2. Kremer EJ, Pritchard M, Lynch M, et al Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 1991;252:1711-14.
3. Oberlé I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097-102.
4. Verkerk AJMH, Pieretti M, Sutcliffe JS, 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.
5. Fu YH, Kuhl DPA, Pizutti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-58.
6. Antinolo G, Borrego S, Cabeza JC, Sanchez R, Sanchez J, Sanchez B. Reverse mutation in fragile X syndrome. Am J Hum Genet 1996;58:237-9.
7. Zhong N, Dobkin C, Brown WT. A complex mutable polymorphism located within the fragile X gene. Nat Genet 1993;5:248-53.
8. Brown WT, Houck GE, Ding X, et al. Reverse mutations in the fragile X syndrome. Am J Hum Genet 1996;64:287-92.
9. van den Ouweland AMW, Deelen WH, Kunst CB, et al. Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet 1994;3:1823-7.
10. Vits L, De Boulle K, Reyniers E, et al. Apparent regression of the CGG repeat in FMR1 to an allele of normal size. Hum Genet 1994;94:523-6.
11. Väisänen ML, Haataja R, Leisti J. Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission. Am J Hum Genet 1996;59:540-6.
12. Smeets HJM, Smits APT, Verheij CE, et al. Normal phenotype in two brothers with a full FMR1 mutation. Hum Mol Genet 1995;4:2103-8.
13. O'Hoy KL, Tsilfidis C, Mahadevan MS, et al. Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science 1993;259:809-12.
14. Oostra BA, Jacky PB, Brown WT, Rousseau F. Guidelines for the diagnosis of fragile X syndrome. J Med Genet 1993; 30:410-13.
15. Willemsen R, Oosterwijk JC, Los FH, Galjaard H, Oostra BA. Prenatal diagnosis of fragile X syndrome. Lancet 1996; 348:967-8.