A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes


GOODING R., COLOMER J., KING R., ANGELICHEVA D., MARNS L., Parman Y. , ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.42, 2005 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 42 Konu: 12
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1136/jmg.2005.034132
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS

Özet

Background: Linkage, haplotype and sequencing analysis in a large Spanish Gypsy kindred with multiple members affected by autosomal recessive peripheral neuropathy led to the identification of a novel mutation, p.Arg1109X, in the CMT4C gene. The screening of further unrelated patients, and of a panel of ethnically matched controls, showed that p.Arg1109X is an ancestral mutation which occurs in Gypsy populations across Europe and is the most common cause of autosomal recessive Charcot-Marie-Tooth disease in Spanish Gypsies.