A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

@article{Karaer2015ANK,
  title={A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.},
  author={Kadri Zafer Karaer and Zafer Yuksel and Amale Ichkou and Cuneyt Calisir and Tania Atti{\'e}-Bitach},
  journal={Clinical dysmorphology},
  year={2015},
  volume={24 2},
  pages={
          61-4
        }
}
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… CONTINUE READING