An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome

被引：31

作者：

Balraj, P

Concannon, P

Jamal, R

Beghini, A

Hoe, TS

Khoo, AS

Volpi, L ^{[1
]}

机构：

[1] Ctr Canc Res, Inst Med Res, Div Mol Pathol, Kuala Lumpur 50588, Malaysia

[2] Virginia Mason Res Ctr, Mol Genet Program, Seattle, WA 98101 USA

[3] Univ Kebangsaan Malaysia, Fac Med, Dept Paediat, Kuala Lumpur, Malaysia

[4] Univ Milan, Dept Biol & Genet Med Sci, I-20133 Milan, Italy

[5] Selangor Med Ctr, Paediat Clin, Selangor, Malaysia

来源：

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS | 2002年 / 508卷 / 1-2期

关键词：

Rothmund-Thomson syndrome; RECQ4; intronic mutation; splicing;

D O I：

10.1016/S0027-5107(02)00189-6

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Rothmund-Thomson syndrome (OMIM#268400) is a severe autosomal recessive genodermatosis: characterised by growth retardation, hyperpigmentation and frequently accompanied by congenital bone defects, brittle hair and hypogonadism. Mutations in helicase RECQ4 gene are responsible for a subset of cases of RTS. Only six mutations have been reported, thus, far and each affecting the coding sequence or the splice junctions. We report the first homozygous mutation in RECQ4 helicase: 2746-2756-deITGGGCTGAGGC in IVS8 responsible for the severe phenotype associated with RTS in a Malaysian pedigree. We report also a 5321 G --> A transition in exon 17 and the updated list of the RECQ4 gene mutations. (C) 2002 Elsevier Science B.V. All rights reserved.

引用

页码：99 / 105

页数：7