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Article

A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability

27 Jun 2019

Abstract excerpt

Background Dominant deafness-onychodystrophy (DDOD) syndrome is a rare disorder mainly characterized by severe deafness, onychodystrophy and brachydactyly. We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. Clinical follow-up of DDOD syndrome patients with cochlear implantation revealed the language rehabilitation was...

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PMID: 31257146
DOI: 10.1016/j.ebiom.2019.06.035

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