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Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;two affected siblings;father is GM20191;donor subject is homozygous for a splice site mutation: IVS3-1G>A causes the use of a cryptic splice-acceptor site within exon 4 of the MARVELD2 (TRIC) gene which results in the deletion of the first 17 nt of exon 4 and a nonsense mutation (p.C395fsX396)
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