Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease

Parman Y., Plante-Bordeneuve V., Guiochon-Mantel A., Eraksoy M., Said G.

ANNALS OF NEUROLOGY, cilt.45, sa.4, ss.518-522, 1999 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 45 Sayı: 4
  • Basım Tarihi: 1999
  • Dergi Adı: ANNALS OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.518-522
  • İstanbul Üniversitesi Adresli: Evet

Özet

The existence of recessive transmission of Dejerine-Sottas disease, a severe demyelinating neuropathy of childhood, has been questioned, because only heterozygous mutations of the myelin proteins P-0 or PMP22 genes have been identified in virtually all patients with this phenotype. We report on a family with 3 affected children with this phenotype, born to clinically and electrophysiologically unaffected parents. All 3 children carried a previously unknown homozygous missense point mutation (Arg157Trp) of the PMP22 gene. The parents were heterozygous for the same mutation. These findings demonstrate the occurrence of recessive transmission in this setting.