Hearing lossGene: MET
Comment on list classification: Promoting this gene to amber as two cases reported, with segregation data.
Created: 1 Dec 2020, 6:43 p.m. | Last Modified: 1 Dec 2020, 6:43 p.m.
Panel Version: 2.131
Gene suggested by Professor Sadaf Naz, PhD, School of Biological Sciences, University of the Punjab, Pakistan
Provisionally associated with ?Deafness, autosomal recessive 97 MIM#616705 in OMIM. 2 cases reported:
PMID: 25941349 - Mujtaba et al 2015 - report a large consanguineous Pakistani family with some members affected by hearing loss. They identified, through genome-wide homozygosity mapping and then whole exome sequencing, a homozygous missense variant located in MET (NM_000245.2), c.2521T>G (p.F841V) that segregates with hearing loss in 9 affected individuals.
PMID: 27717089 - Alabdullatif et al 2017 - from a review of clinical and molecular data for 227 individuals from a highly consanguineous population who underwent a combined (CGH+SNP) CMA test, they report 2 brothers with hearing loss and arthrogryposis in which a homozygous variant c.3557T>G (p.F1186C) in MET was identified through WES after a region of homozygosity was identified. The first cousin parents were both heterozygous for this variant. They suggest that the arthrogryposis could be a variable feature of the disease or be caused by a second recessive disease not detected in this study.
Sources: Expert list
Created: 1 Dec 2020, 6:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Deafness, autosomal recessive 97 OMIM:616705; autosomal recessive nonsyndromic deafness 97 MONDO:0014739
Gene: met has been classified as Amber List (Moderate Evidence).
gene: MET was added gene: MET was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: MET was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MET were set to 25941349; 27717089 Phenotypes for gene: MET were set to Deafness, autosomal recessive 97 OMIM:616705; autosomal recessive nonsyndromic deafness 97 MONDO:0014739 Review for gene: MET was set to AMBER