Article
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
PloS one - 1 Jan 2022
Gerlevik Umut, Saygı Ceren, Cangül Hakan, Kutlu Aslı, Çaralan Erdal Fırat, Topçu Yasemin, Özören Nesrin, Sezerman Osman Uğur
Abstract excerpt
BACKGROUND: Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNH-associated FLNA mutations are female whereas liveborn males with FLNA mutations are very rare. Fetal viability of the males seems to depend on the severity of the variant. Splicing or severe truncations presumed loss of function...
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