Background: Koolen-de Vries syndrome is a rare genetic disorder marked by developmental and speech delays, intellectual disability, hypotonia, seizures, multiple congenital anomalies, and dysmorphic facial features. This syndrome is caused by microdeletions or loss-of-function mutations in the KANSL1 gene. KANSL1 encodes a nuclear protein that, via histone modification, regulates global transcription.
Case: The patient was referred to our clinic due to a combination of intellectual disability, developmental delay, epilepsy, and dysmorphic facial features. A de novo missense heterozygous mutation c 0.1774 C > T (p.Arg592Trp) in the KANSL1 gene was discovered using trio whole exome sequencing.
Conclusion: This is the first case report of Koolen-de Vries syndrome in Turkey, to the best of our knowledge.
Keywords: Exome sequencing; Intellectual disability; KANSL1; Koolen-de Vries syndrome; Missense mutaiton; Whole.
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