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A CLASP1 variant suggests a phenotypic relation with lissencephaly in humans

ALSAFH, R.; ALHASHEM, A.; ELSAYED, A.; YUEKSEL, Z.; GRAIES-TLILI, K.; THABET, F.; TABARKI, B.

2024-03-14 genetics
10.1101/2024.03.12.584685 bioRxiv
Show abstract

Lissencephaly is a severe brain developmental disorder; characterized by reduced brain folding due to defective neuronal migration. This study investigates the genetic basis of lissencephaly in a consanguineous family, focusing on the CLASP1 gene. Whole-exome sequencing identified a novel homozygous variant (c.4442G>A p.(Arg1481His)) in CLASP1. Clinical evaluation revealed severe developmental delays, microcephaly, seizures, and lissencephaly in the affected siblings. The variant was heterozygous in the healthy parents and a heterozygous carrier in an unaffected sibling. This study underscores the role of CLASP1 in brain development and suggests that the identified variant disrupts CLASP1 interaction with the microtubule cytoskeleton, contributing to lissencephaly pathogenesis.

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