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

作者：Schultz JM; Yang Y; Caride AJ; Filoteo AG; Penheiter AR; Lagziel A; Morell RJ; Mohiddin SA; Fananapazir L; Madeo AC; Penniston JT; Griffith AJ^*

来源：New England Journal of Medicine, 2005, 352(15): 1557-1564.

DOI：10.1056/NEJMoa043899

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.

• 出版日期2005-4-14
• 单位NIH