Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

Bissar-Tadmouri N., Nelis E., Zuchner S., Parman Y., Deymeer F., Serdaroglu P., ...Daha Fazla

NEUROLOGY, cilt.62, sa.9, ss.1522-1525, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Sayı: 9
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1212/01.wnl.0000123253.57555.3a
  • Dergi Adı: NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1522-1525
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background: Charcot-Marie-Tooth disease type 2A (CMT2A) was assigned to a 19.3-cM region on chromosome 1p35-36. A missense mutation in the kinesin family member 1B gene (KIF1B) was reported in a single CMT2A family. Objective: To report the clinical and genetic data of a Turkish family with CMT2A. Methods: Linkage to CMT2 loci was investigated in the family. Haplotype analysis of the CMT2A region was completed using additional single-nucleotide polymorphism and short tandem repeat markers. The KIF1B gene was sequenced on genomic DNA and cDNA in two patients. Results: A recombination event narrowed the CMT2A locus to a 9.3-cM region flanked by D1S160 and D1S434. No mutation in KIF1B was found. Conclusion: The exclusion of KIF1B gene mutations in this family suggests the involvement of another CMT2A gene in the linked region.