Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

COLOMER J., GOODING R., ANGELICHEVA D., KING R. H. M., GUILLEN-NAVARRO E., Parman Y., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.16, sa.7, ss.449-453, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 7
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1016/j.nmd.2006.05.005
  • Dergi Adı: NEUROMUSCULAR DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.449-453
  • Anahtar Kelimeler: CMT4C, founder mutation, genotype-phenotype correlations, MARIE-TOOTH-DISEASE, CHROMOSOME 5Q23-Q33, SENSORY NEUROPATHY, GENE, MOTOR, FORM
  • İstanbul Üniversitesi Adresli: Evet

Özet

We investigated the manifestations of CMT4C disease in a genetically homogeneous group of patients homozygous for the recently identified Gypsy founder mutation p.Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor and sensory involvement, scoliosis, and cranial nerve involvement, suggesting that the phenotypic spectrum of CMT4C disease is much broader than the classical diagnostic criteria. Phenotype similarity in first degree relatives and increasing heterogeneity in more distantly related subjects point to the involvement of genetic modifiers, possibly variants in the genes encoding protein partners interacting with SH3TC2. (C) 2006 Elsevier B.V. All rights reserved.