𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry

✍ Scribed by James German; Maureen M. Sanz; Susan Ciocci; Tian Z. Ye; Nathan A. Ellis

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
293 KB
Volume
28
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Albert de la Chapelle Bloom syndrome (BS) is caused by homozygous or compound heterozygous mutations in the RecQ DNA helicase gene BLM. Since the molecular isolation of BLM, characterization of BS-causing mutations has been carried out systematically using samples stored in the Bloom's Syndrome Registry. In a survey of 134 persons with BS from the Registry, 64 different mutations were identified in 125 of them, 54 that cause premature protein-translation termination and 10 missense mutations. In 102 of the 125 persons in whom at least one BLM mutation was identified, the mutation was recurrent, that is, it was shared by two or more persons with BS; 19 of the 64 different mutations were recurrent. Ethnic affiliations of the persons who carry recurrent mutations indicate that the majority of such persons inherit their BLM mutation identical-by-descent from a recent common ancestor, a founder. The presence of widespread founder mutations in persons with BS points to population genetic processes that repeatedly and pervasively generate mutations that recur in unrelated persons. Hum Mutat 28(8), 743-753, 2007.

πŸ“œ SIMILAR VOLUMES

A rapid method for detecting the predomi
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene
✍ Joel E. Straughen; Juliana Johnson; Donna McLaren; Maria Proytcheva; Nathan Elli πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 157 KB πŸ‘ 1 views

Bloom's syndrome (BS) is a rare, autosomal recessive disease characterized by sun sensitivity, short stature, and predisposition to cancer. Although rare in the general population, BS is more common in the Ashkenazi Jewish population (German, 1993). The isolation of the gene for BS, known as BLM, ha

Mutations in the G6PC3 gene cause Dursun
Mutations in the G6PC3 gene cause Dursun syndrome
✍ Siddharth Banka; William G. Newman; R. Koksal Γ–zgΓΌl; Ali Dursun πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 129 KB πŸ‘ 1 views

## Abstract Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in __G6PC3__ cause Dursun syndrome. Mutations in __G6PC3__ are known to also cause severe congenital neutropenia type 4. Identification of the

Mutations in the NSDHL gene, encoding a
Mutations in the NSDHL gene, encoding a 3?-hydroxysteroid dehydrogenase, cause CHILD syndrome
✍ KοΏ½nig, Arne; Happle, Rudolf; Bornholdt, Dorothea; Engel, Hartmut; Grzeschik, Kar πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 98 KB πŸ‘ 2 views

We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at