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

• Main Authors: Celia Zazo Seco (Author), Anna Castells-Nobau (Author), Seol-hee Joo (Author), Margit Schraders (Author), Jia Nee Foo (Author), Monique van der Voet (Author), S. Sendhil Velan (Author), Bonnie Nijhof (Author), Jaap Oostrik (Author), Erik de Vrieze (Author), Radoslaw Katana (Author), Atika Mansoor (Author), Martijn Huynen (Author), Radek Szklarczyk (Author), Martin Oti (Author), Lisbeth Tranebjærg (Author), Erwin van Wijk (Author), Jolanda M. Scheffer-de Gooyert (Author), Saadat Siddique (Author), Jonathan Baets (Author), Peter de Jonghe (Author), Syed Ali Raza Kazmi (Author), Suresh Anand Sadananthan (Author), Bart P. van de Warrenburg (Author), Chiea Chuen Khor (Author), Martin C. Göpfert (Author), Raheel Qamar (Author), Annette Schenck (Author), Hannie Kremer (Author), Saima Siddiqi (Author)
• Format: Book
• Published: The Company of Biologists, 2017-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...