A novel KIF7 mutation in two affected siblings with acrocallosal syndrome

  title={A novel KIF7 mutation in two affected siblings with acrocallosal syndrome},
  author={K. Karaer and Z. Yuksel and A. Ichkou and C. Calisir and T. Atti{\'e}-Bitach},
  journal={Clinical Dysmorphology},
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… Expand
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