Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family

Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a rare disorder with an unknown etiology. We present a British family with presumed autosomal dominant CANVAS with incomplete penetrance and variable expressivity. Exome sequencing identified a rare missense va...

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Bibliographic Details
Main Authors: Hena Ahmad, Teresa Requena, Lidia Frejo, Marien Cobo, Alvaro Gallego-Martinez, Francisco Martin, Jose A. Lopez-Escamez, Adolfo M. Bronstein
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-03-01
Series:Frontiers in Genetics
Subjects:
cerebellar ataxia
vestibular hypofunction
neuropathy
whole-exome sequencing
ETS domain
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00085/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2018.00085/full

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