<i>DFNA5</i> (<i>GSDME</i>) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

<i>DFNA5</i> (<i>GSDME</i>) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

Deafness due to mutations in the <i>DFNA5</i> gene is caused by the aberrant splicing of exon 8, which results in a constitutively active truncated protein. In a large family of European descent (MORL-ADF1) segregating autosomal dominant nonsyndromic hearing loss, we used the OtoSCOPE pl...

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Bibliographic Details
Main Authors: Kevin T. Booth, Hela Azaiez, Richard J. H. Smith
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:International Journal of Molecular Sciences
Subjects:
<i>DFNA5</i>
<i>GSDME</i>
founder mutation
mutational hotspot
RNA splicing
Online Access:https://www.mdpi.com/1422-0067/21/11/3951

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