Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation

被引：21

作者：

Poirier, K

Abriol, J

Souville, I

Laroche-Raynaud, C

Beldjord, C

Gilbert, B

Chelly, J

Bienvenu, T

机构：

[1] Univ Paris 05, Inst Cochin, INSERM, U567,IFR116, F-75014 Paris, France

[2] Hop Cochin, Lab Biochim & Genet Mol, F-75674 Paris, France

[3] CHU Dupuytren, Serv Pediat, F-87042 Limoges, France

[4] CHU Poitiers, Serv Genet Clin, F-86021 Poitiers, France

来源：

HUMAN GENETICS | 2005年 / 118卷 / 01期

关键词：

D O I：

10.1007/s00439-005-0011-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe two brothers with mental retardation (MR) due to a c.428 (-) 451 dup24 in the ARX gene. The mother did not apparently carry the mutation, as determined by dHPLC and by fragment size analysis. Using semiquantitative fluorescent PCR, we show however that 4% of her lymphocytes and 24% of her fibroblasts harbored the duplication. We thus show that the mother displays somatic mosaicism for the duplication thereby highlighting the need to reconsider the molecular screening in sporadic cases of MR.

引用

页码：45 / 48

页数：4

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