A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonse...

Full description

Bibliographic Details
Main Authors: Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
Format: Article
Language:English
Published: The Company of Biologists 2017-02-01
Series:Disease Models & Mechanisms
Subjects:
FITM2
Lipid droplets
Drosophila
Hearing impairment
Motor development
Dystonia
Online Access:http://dmm.biologists.org/content/10/2/105

Internet

http://dmm.biologists.org/content/10/2/105

Similar Items