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Updated: Apr 17, 2026

Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants
Published on: November 28, 2025
A novel KIF7 mutation in two affected siblings with acrocallosal syndrome
Kadri Karaer1, Zafer Yuksel, Amale Ichkou
1aIntergen Genetic Diseases Diagnostic Center, Ankara bMedical Genetics Clinic, Women and Children Hospital, Mersin cRadiology Department, School Of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey dDepartment of Histology-Embryology and Cytogenetics, Necker-Enfants malades Hospital, AP-HP eParis Descartes - Sorbonne Paris Cité University, Imagine Institute fINSERM UMR 1163, Embryology and Genetics of Human Malformation, Paris, France.
Abstract:
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.
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