Balraj Pauline, Concannon Pat, Jamal Rahman, Beghini Alessandro, Hoe T S, Khoo Alan Soobeng, Volpi Ludovica
Division of Molecular Pathology, Cancer Research Centre, Institute for Medical Research, 50588 Kuala Lumpur, Malaysia.
Mutat Res. 2002 Oct 31;508(1-2):99-105. doi: 10.1016/s0027-5107(02)00189-6.
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-delTGGGCTGAGGC 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.
