An unusual mutation in RECQ4 gene leading to Rothmund–Thomson syndrome
| Autor: | T. S. Hoe, Pauline Balraj, A. Rahman A. Jamal, Ludovica Volpi, Alessandro Beghini, Patrick Concannon, Alan Soo-Beng Khoo |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Male
Adolescent Health Toxicology and Mutagenesis Bone Neoplasms Gene mutation Biology medicine.disease_cause Amputation Surgical Exon Diseases in Twins Twins Dizygotic Genetics Intronic Mutation medicine Humans Molecular Biology Gene Rothmund–Thomson syndrome Osteosarcoma Mutation RecQ Helicases Transition (genetics) Homozygote DNA Helicases Rothmund-Thomson Syndrome Genodermatosis Exons medicine.disease Pedigree Alternative Splicing Female |
| Zdroj: | Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 508:99-105 |
| ISSN: | 0027-5107 |
| DOI: | 10.1016/s0027-5107(02)00189-6 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect