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

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.
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
Journal	The New England journal of medicine (N Engl J Med) Vol. 352 Issue 15 Pg. 1557-64 (Apr 14 2005) ISSN: 1533-4406 [Electronic] United States
PMID	15829536 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, P.H.S.)
Copyright	Copyright 2005 Massachusetts Medical Society.
Chemical References	CDH23 protein, human Cadherin Related Proteins Cadherins Cation Transport Proteins Plasma Membrane Calcium-Transporting ATPases ATP2B2 protein, human Calcium-Transporting ATPases
Topics	Adult Alleles Cadherin Related Proteins Cadherins (genetics) Calcium-Transporting ATPases (genetics) Cation Transport Proteins Female Genes, Recessive Genotype Hearing Loss, Sensorineural (classification, genetics) Heterozygote Humans Male Middle Aged Multifactorial Inheritance Mutation, Missense Pedigree Phenotype Plasma Membrane Calcium-Transporting ATPases Point Mutation Siblings

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