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lüll Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4 Deng HX; Klein CJ; Yan J; Shi Y; Wu Y; Fecto F; Yau HJ; Yang Y; Zhai H; Siddique N; Hedley-Whyte ET; Delong R; Martina M; Dyck PJ; Siddique TNat Genet 2010[Feb]; 42 (2): 165-9Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous disorders involving topographically distinct nerves and muscles. We originally described a large New England family of French-Canadian origin with SPSMA and an American family of English and Scottish descent with CMT2C. We mapped SPSMA and CMT2C risk loci to 12q24.1-q24.31 with an overlapping region between the two diseases. Further analysis reduced the CMT2C risk locus to a 4-Mb region. Here we report that SPSMA and CMT2C are allelic disorders caused by mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 4 (TRPV4). Functional analysis revealed that increased calcium channel activity is a distinct property of both SPSMA- and CMT2C-causing mutant proteins. Our findings link mutations in TRPV4 to altered calcium homeostasis and peripheral neuropathies, implying a pathogenic mechanism and possible options for therapy for these disorders.|*Alleles[MESH]|Amino Acid Sequence[MESH]|Base Sequence[MESH]|Cell Line[MESH]|Cell Membrane/drug effects/metabolism[MESH]|Charcot-Marie-Tooth Disease/*complications/*genetics/physiopathology[MESH]|DNA Mutational Analysis[MESH]|Female[MESH]|Humans[MESH]|Hypotonic Solutions/pharmacology[MESH]|Ion Channel Gating/drug effects[MESH]|Male[MESH]|Molecular Sequence Data[MESH]|Muscular Atrophy, Spinal/*complications/*genetics/pathology/physiopathology[MESH]|Mutant Proteins/metabolism[MESH]|Mutation/*genetics[MESH]|Pedigree[MESH]|Protein Transport/drug effects[MESH]|TRPV Cation Channels/chemistry/*genetics[MESH]|Transfection[MESH] |