Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Neurology

Volumn 79, Issue 2, 2012, Pages 192-194

  Landouré, Guida ^a,c,e   Sullivan, Jeremy M ^f   Johnson, Janel O ^b,d   Munns, Clare H ^g   Shi, Yijun ^a   Diallo, Oumarou ^a   Gibbs, J Raphael ^b,d   Gaudet, Rachelle ^h   Ludlow, Christy L ⁱ   Fischbeck, Kenneth H ^a   Traynor, Bryan J ^b   Burnett, Barrington G ^a   Sumner, Charlotte J ^f,g  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF BAMAKO   (Mali)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g JOHNS HOPKINS UNIVERSITY   (United States)

^h HARVARD UNIVERSITY   (United States)

ⁱ JAMES MADISON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CALCIUM; GLUTAMINE; VANILLOID RECEPTOR 4;

AMINO ACID SUBSTITUTION; BONE DYSPLASIA; CALCIUM CELL LEVEL; CELL DEATH; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOTOXICITY; EXOME; EXOME SEQUENCING; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HOARSENESS; HUMAN; LARYNGOSCOPY; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION; NEUROPATHY; NOTE; PERCEPTION DEAFNESS; PHENOTYPE; PHRENIC NERVE; PRIORITY JOURNAL; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STRIDOR;

EID: 84866250052     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31825f04b2     Document Type: Article

References (7)

1. Landouré G, Zdebik AA, Martinez TL, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet 2010;42:170 -174.
2. Zimoń M, Baets J, Auer-Grumbach M, et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 2010;133:1798 -1809.
3. Phelps CB, Wang RR, Choo SS, Gaudet R. Differential regulation of TRPV1, TRPV3, and TRPV4 sensitivita through a conserved binding site on the ankyrin repeat domain. J Biol Chem 2010;285:731-740.
4. Deng HX, Klein CJ, Yan J, et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010;42: 165-169.
5. Auer-Grumbach M, Olschewski A, Papic L, et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2010;42:160 -164.
6. Chen DH, Sul Y, Weiss M, et al. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology 2010;75:1968 -1975.
7. Guilak F, Leddy HA, Liedtke W. Transient receptor potential vanilloid 4: The sixth sense of the musculoskeletal system? Ann NY Acad Sci 2010;1192:404-409.