𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort

✍ Scribed by Isabelle Audo; Marie-Elise Lancelot; Saddek Mohand-Saïd; Aline Antonio; Aurore Germain; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
169 KB
Volume
32
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Autosomal-recessive retinitis pigmentosa (arRP) is a genetically heterogeneous group of disorders to which a novel gene, C2orf71, was recently associated. The purpose of our study was to establish the prevalence and nature of C2orf71 mutations in a clinically well-characterized cohort of 345 sporadic and arRP French cases. Direct sequencing of C2orf71 was performed in 209 subjects for whom mutations had previously been excluded by microarray technology and direct sequencing of EYS. Putative pathogenicity of the identified variants was evaluated through cosegregation analysis, screening of more than 188 control chromosomes and prediction programs. We identified two patients compound heterozygous for mutations predicted to lead to a premature stop codon, 3 of which are novel. In addition, 3 patients carried a single variant of likely pathogenicity. Furthermore a large number of novel putative non-disease causing variants were identified, highlighting the extremely polymorphic nature of C2orf71. To our knowledge, our study provides the first large scale screening of C2orf71 in a French arRP cohort through direct sequencing and suggests that it would account for approximately 1% of arRP cases. ©2011 Wiley-Liss, Inc.

📜 SIMILAR VOLUMES

Novel NOBOX loss-of-function mutations a
Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort
✍ Justine Bouilly; Anne Bachelot; Isabelle Broutin; Philippe Touraine; Nadine Bina 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 335 KB

Primary ovarian insufficiency (POI) is a disorder associated with female infertility, which affects approximately 1% of women under 40 years of age. A genetic component has been suggested as one possible cause of the majority of cases of nonsyndromic forms. Newborn Ovary Homeobox (NOBOX) is an ovary

CCM2 mutations account for 13% of cases
CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations
✍ Dominique J. Verlaan; Sandra B. Laurent; Daniel L. Rochefort; Christina L. Liquo 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB

We report a trial of minocycline in people with relapsingremitting multiple sclerosis (RRMS) that evaluates safety and estimates its effect on magnetic resonance imaging (MRI). Ten subjects with active RRMS received oral minocycline 100mg twice daily for 6 months after a 3-month run-in period. A 30-

Splicing mutations, mainly IVS6-1(G>T),
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients
✍ J.A. Arranz; F. Piñol; L. Kozak; C. Pérez-Cerdá; B. Cormand; M. Ugarte; E. Riudo 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 343 KB 👁 1 views

Hereditary tyrosinemia type I (HTI) is an autosomal recessive disease characterized by a deficiency in fumarylacetoacetate hydrolase (FAH) activity. In this work, the FAH genotype was established in a group of 29 HTI patients, most of them from the Mediterranean area. We identified seven novel mutat