Abstract：
:The vast majority of patients with fragile X syndrome show a folate-sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG)n repeat and hypermethylation of the CpG island in the 5' fragile X gene (FMR-1) at the molecular level. We have studied the FMR-1 gene of a patient with the fragile X phenotype but without cytogenetic expression of FRAXA, a (CGG)n repeat of normal length and an unmethylated CpG island. We find a single point mutation in FMR-1 resulting in an lle367Asn substitution. This de novo mutation is absent in the patient's family and in 130 control X chromosomes, suggesting that the mutation causes the clinical abnormalities. Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
De Boulle K,Verkerk AJ,Reyniers E,Vits L,Hendrickx J,Van Roy B,Van den Bos F,de Graaff E,Oostra BA,Willems PJdoi
10.1038/ng0193-31subject
Has Abstractpub_date
1993-01-01 00:00:00pages
31-5issue
1eissn
1061-4036issn
1546-1718journal_volume
3pub_type
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