Auditory Neuropathy Spectrum Disorder
Gene: DIAPH3Comment on list classification: 2 cases reported so changing rating from red to amberCreated: 17 Feb 2019, 11:28 p.m.
Associated with Auditory neuropathy, autosomal dominant, 1 (609129) in OMIM.
PMID: 20624953 - Schoen et al. (2010) - Identified a heterozygous mutation (-172G-A) in the 5-prime untranslated region of the DIAPH3 gene in a large family (33 affected members) with autosomal dominant auditory neuropathy-1. Some individuals are homozygous for the variant. Using genome-wide expression arrays and quantitative RT-PCR, they demonstrate a 2- to 3-fold overexpression of DIAPH3 mRNA in lymphoblastoid cell lines from affected individuals.
PMID: 27658576 - Martinez et al 2017 - 3 family members with progressive bilateral deafness from the age of 20 years. A c.-173C>T variant, located in the regulatory region of DIAPH3 was found in affected family members, but not in 2 unaffected family members.Created: 17 Feb 2019, 11:28 p.m.
Comment when marking as ready: Agree with reviewCreated: 10 May 2016, 8:57 p.m.
Publications for gene: DIAPH3 were set to
Mode of inheritance for gene: DIAPH3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: diaph3 has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
DIAPH3 was added to Auditory Neuropathy Spectrum Disorder panel. Sources: Radboud University Medical Center, Nijmegen