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

被引：135

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

机构：

[1] NIDCD, Sect Gene Struct & Funct, NIH, Rockville, MD 20850 USA

[2] NIDCD, Sect Human Genet, NIH, Rockville, MD 20850 USA

[3] NIDCD, Hearing Sect, NIH, Rockville, MD 20850 USA

[4] NHLBI, Cardiovasc Branch, NIH, Bethesda, MD 20892 USA

[5] Mayo Clin & Mayo Fdn, Dept Biochem & Mol Biol, Rochester, MN 55905 USA

[6] Mayo Clin & Mayo Fdn, Dept Anesthesiol, Rochester, MN 55905 USA

[7] Massachusetts Gen Hosp, Ctr Neurosci, Boston, MA 02129 USA

[8] Harvard Univ, Sch Med, Boston, MA USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2005年 / 352卷 / 15期

关键词：

D O I：

10.1056/NEJMoa043899

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1557 / 1564

页数：8

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