title: An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome.
abstract: 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.
authors.affiliation: Division of Molecular Pathology, Cancer Research Centre, Institute for Medical Research, 50588 Kuala Lumpur, Malaysia.
authors.forename: Pauline
authors.initials: P
authors.lastname: Balraj
authors.forename: Pat
authors.initials: P
authors.lastname: Concannon
authors.forename: Rahman
authors.initials: R
authors.lastname: Jamal
authors.forename: Alessandro
authors.initials: A
authors.lastname: Beghini
authors.forename: T S
authors.initials: TS
authors.lastname: Hoe
authors.forename: Alan Soobeng
authors.initials: AS
authors.lastname: Khoo
authors.forename: Ludovica
authors.initials: L
authors.lastname: Volpi
mesh_terms: D000293:Adolescent; D017398:Alternative Splicing; D000671:Amputation, Surgical; D001859:Bone Neoplasms / Q000188:drug therapy / Q000209:etiology / Q000601:surgery; D004265:DNA Helicases / Q000235:genetics*; D004200:Diseases in Twins; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D012516:Osteosarcoma / Q000188:drug therapy / Q000209:etiology / Q000601:surgery; D010375:Pedigree; D053484:RecQ Helicases; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000235:genetics* / Q000628:therapy; D014429:Twins, Dizygotic
chemical_list: D004265:DNA Helicases; D053484:RecQ Helicases