Ontology highlight
ABSTRACT:
SUBMITTER: Cottenie E
PROVIDER: S-EPMC4225647 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Cottenie Ellen E Kochanski Andrzej A Jordanova Albena A Bansagi Boglarka B Zimon Magdalena M Horga Alejandro A Jaunmuktane Zane Z Saveri Paola P Rasic Vedrana Milic VM Baets Jonathan J Bartsakoulia Marina M Ploski Rafal R Teterycz Pawel P Nikolic Milos M Quinlivan Ros R Laura Matilde M Sweeney Mary G MG Taroni Franco F Lunn Michael P MP Moroni Isabella I Gonzalez Michael M Hanna Michael G MG Bettencourt Conceicao C Chabrol Elodie E Franke Andre A von Au Katja K Schilhabel Markus M Kabzińska Dagmara D Hausmanowa-Petrusewicz Irena I Brandner Sebastian S Lim Siew Choo SC Song Haiwei H Choi Byung-Ok BO Horvath Rita R Chung Ki-Wha KW Zuchner Stephan S Pareyson Davide D Harms Matthew M Reilly Mary M MM Houlden Henry H
American journal of human genetics 20141030 5
Using a combination of exome sequencing and linkage analysis, we investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2). Compound heterozygous mutations in the immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) gene were identified. Further sequencing revealed a total of 11 CMT2 families with recessively inherited IGHMBP2 gene mutations. IGHMBP2 mutations usually lead to spinal muscular atrophy with respiratory distress ...[more]