A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Published: Jan 1, 2016
Abstract
A consanguineous family from Pakistan was ascertained with 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 conserved protein family involved...
Paper Details
Title
A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Published Date
Jan 1, 2016
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