(Mentions HMSN/CMT 2C)TRPV4-pathy, a novel channelopathy affecting diverse syste

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J Hum Genet. 2010 May 27

TRPV4-pathy, a novel channelopathy affecting diverse systems.

Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa

S.

[1] Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN,

Tokyo, Japan [2] The Center of Diagnosis and Treatment for Joint Disease, Drum

Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing,

China.

Abstract

Transient receptor potential cation channel, subfamily V, member 4 (TRPV4) is a

calcium-permeable nonselective cation channel of unknown biological function.

TRPV4 mutation was first identified in brachyolmia, and then in a spectrum of

autosomal-dominant skeletal dysplasias, which includes Kozlowski type of

spondylometaphyseal dysplasia, metatropic dysplasia, Maroteaux type of

spondyloepiphyseal dysplasia and parastremmatic dysplasia.

Recently, TRPV4 mutation has also been identified in a spectrum of neuromuscular

diseases that includes congenital distal spinal muscular atrophy (SMA),

scapuloperoneal SMA, and hereditary motor and sensory neuropathy type IIC.

These diverse spectrums of diseases compose a novel channelopathy, TRPV4-pathy,

which could further include polygenic traits such as serum sodium concentration

and a chronic obstructive pulmonary disease.

In this review, we clarified the TRPV4 mutation spectrum, and discussed the

phenotypic complexity of TRPV4-pathy and its pathogenic mechanisms. TRPV4-pathy

may extend further to other monogenic and polygenic diseases.Journal of Human

Genetics advance online publication, 27 May 2010; doi:10.1038/jhg.2010.37