A novel KIF7 mutation in two affected siblings with acrocallosal syndrome

Karaer K., Yuksel Z., Ichkou A., ÇALIŞIR C., Attie-Bitach T.

CLINICAL DYSMORPHOLOGY, cilt.24, sa.2, ss.61-64, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1097/mcd.0000000000000080
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.61-64
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Acrocallosal syndrome (ACLS) is a rare genetic disorder typically characterized by craniofacial dysmorphism, agenesis, or hypoplasia of the corpus callosum, and duplication of the phalanges of halluces and/or the thumbs. ACLS is a recessive ciliopathy caused by mutations in KIF7. We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A>C, located at the acceptor splice site of intron 12 of KIF7 (IVS12-2A>C). The present report will contribute towards further understanding of the genotype-phenotype correlation in ACLS caused by KIF7 mutations. Copyright (C) 2015 Wolters Kluwer Health, Inc. All rights reserved.