Modification of human hearing loss by plasma-membrane calcium pump PMCA2

Article Abstract:

The case of five adult siblings with autosomal recessive sensorineural hearing loss, where two had high-frequency loss, and the other three had sever-to-profound loss affecting all frequencies is presented. Genetic evaluation revealed that a homozygous mutation in CDH23 caused the hearing loss and that a heterozygous, hypofunctional variant (V586M) in plasma-membrane calcium pump PMCA2, which is encoded by ATP2B2, was associated with increased loss in the three severely affected siblings.

United Kingdom, Science & research, Research, Cell membranes, Hearing loss

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Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

Article Abstract:

A mutation in the gene for connexin 26 may be responsible for some cases of hereditary deafness. Connexin 26 is a protein in the inner ear involved in cell communication. Researchers tested three Ashkenazi Jewish families for mutations in the connexin 26 gene, which is called GJB2. Two mutations were identified and 5% of the family members had one of the mutations. This is much higher than the rate in the general population.

Gene mutations, Gene mutation, Genetic aspects, Identification and classification, Deafness

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A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

Article Abstract:

The Usher syndrome which is classified into three clinical subtypes with the most sever type being the type 1 Usher syndrome is an autosomal recessive disorder characterized by bilateral sensorineural deafness and loss of vision due to retinitis pigmentosa. Several rare genetic disorders in Ashkenazi Jews are associated with prevalent founder mutations segregating in this population.

United States, Health aspects, Diagnosis, Genetic disorders, Usher's syndrome

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