NO APPARENT INVOLVEMENT OF THE FMR1 GENE IN 5 PATIENTS WITH PHENOTYPIC MANIFESTATIONS OF THE FRAGILE-X-SYNDROME

被引：16

作者：

CHIURAZZI, P

DEGRAAFF, E

NG, J

VERKERK, AJMH

WOLFSON, S

FISCH, GS

KOZAK, L

NERI, G

OOSTRA, BA

机构：

[1] UNIV CATTOLICA SACRO CUORE, FAC MED A GEMELLI, IST GENET MED, ROME, ITALY

[2] KINGS CTY HOSP CTR, NEW YORK, NY USA

[3] ERASMUS UNIV ROTTERDAM, DEPT CLIN GENET, 3000 DR ROTTERDAM, NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 51卷 / 04期

关键词：

FRAGILE X SYNDROME; MUTATION; MARTIN-BELL PHENOTYPE; FMR1; CGG REPEAT; TRINUCLEOTIDE REPEAT; RT-PCR; X-LINKED MENTAL RETARDATION;

D O I：

10.1002/ajmg.1320510405

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Most fragile X patients have a significant increase in the number of CGG repeats in the FMR1 gene. Two patients were described with a deletion and one patient with a point mutation in the FMR1 gene. We describe 5 patients with a fragile X or Martin-Bell phenotype. Two brothers were discordant for the region containing the FMR1 gene; if there is a common cause for the mental retardation this is not located in the FMR1 gene. In the other 3 patients the expression of the FMR1 gene was found to be normal and no abnormalities were noted in the FMR1 mRNA. No amplification was found in the GCC repeat which is associated with the fragile site FRAXE. We conclude that the Martin-Bell phenotype can also be caused by mutations outside the FMR1 gene. (C) 1994 Wiley-Liss, Inc.

引用

页码：309 / 314

页数：6

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