Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)


Yamada K., Andrews C., Chan W., McKeown C., Magli A., de Berardinis T., ...Daha Fazla

NATURE GENETICS, cilt.35, sa.4, ss.318-321, 2003 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Konu: 4
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1038/ng1261
  • Dergi Adı: NATURE GENETICS
  • Sayfa Sayıları: ss.318-321

Özet

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.