A novel KIF7 mutation in two affected siblings with acrocallosal syndrome. Issue 2 (April 2015)

• Record Type: Journal Article
• Authors: Karaer, Kadri; Yuksel, Zafer; Ichkou, Amale; Calisir, Cuneyt; Attié-Bitach, Tania
• Is Part Of: Clinical dysmorphology. Volume 24:Issue 2(2015:Apr.)
• Publication Date: 2015-04
• Subjects: Abnormalities, Human -- Periodicals; Genetic disorders -- Periodicals; Abnormalities -- periodicals; Abnormalities, Human; Periodicals; 616.042
• DOI: 10.1097/MCD.0000000000000080
• Languages: English
• ISSNs: 0962-8827

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <sec> <p>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 <italic>KIF7</italic>. We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A&gt;C, located at the acceptor splice site of intron 12 of <italic>KIF7</italic> (IVS12-2A&gt;C). The present report will contribute towards further understanding of the genotype–phenotype correlation in ACLS caused by <italic>KIF7</italic> mutations.</p> </sec> </abstract>