Journal
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Volume 508, Issue 1-2, Pages 99-105Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/S0027-5107(02)00189-6
Keywords
Rothmund-Thomson syndrome; RECQ4; intronic mutation; splicing
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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.
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