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Modification of Human Hearing Loss by Plasma-Membrane Calcium Pump PMCA2

Year: 2005
Type: article
Abstract: Five adult siblings presented with autosomal recessive sensorineural hearing loss: two had high-frequency loss, whereas the other three had severe-to-profound loss affecting all frequencies. Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23) caused the hearing loss in all five siblings 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. V586M was detected in two unrelated persons with increased sensorineural hearing loss, in the other caused by a mutation in MYO6 (which encodes myosin VI) in one and by noise exposure, suggesting that this variant may modify the severity of sensorineural hearing loss caused by a variety of factors.
DOI: 10.1056/nejmoa043899
Authors: Julie M. Schultz, Yandan Yang, Ariel J. Caride, Adelaida G. Filoteo, Alan R. Penheiter, Ayala Lagziel, Robert J. Morell, Saidi A. Mohiddin, Lameh Fananapazir, Anne C. Madeo, John T. Penniston, Andrew J. Griffith
Institutions: National Institutes of Health, National Institute on Deafness and Other Communication Disorders, Mayo Clinic, National Heart, Lung, and Blood Institute, Harvard University, Massachusetts General Hospital
Language: English
Subfield: Sensory Systems
Open Access status: bronze
Awards: G367172576, ROLE OF THE PLASMA MEMBRANE CALCIUM PUMP IN HEARING, Clinical Analysis Of Disorders Of Hearing And Balance, Molecular Analysis Of Human Hereditary Deafness, G7775656565, Identification of Genes Causing Syndromic And Nonsyndromic Hearing Impairment
OpenAlex ID: W2116016749
FWCI: 4.608
Cites: 22
Cited by: 173
Related to: 10