Article
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
Disease models & mechanisms - 1 Feb 2017
Zazo Seco Celia, Castells-Nobau Anna, Joo Seol-Hee, Schraders Margit, Foo Jia Nee, van der Voet Monique, Velan S Sendhil, Nijhof Bonnie, Oostrik Jaap, de Vrieze Erik, Katana Radoslaw, Mansoor Atika, Huynen Martijn, Szklarczyk Radek, Oti Martin, Tranebjærg Lisbeth, van Wijk Erwin, Scheffer-de Gooyert Jolanda M, Siddique Saadat, Baets Jonathan, de Jonghe Peter, Kazmi Syed Ali Raza, Sadananthan Suresh Anand, van de Warrenburg Bart P, Khor Chiea Chuen, Göpfert Martin C, Qamar Raheel, Schenck Annette, Kremer Hannie, Siddiqi Saima
Abstract excerpt
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 nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary...
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