Article
Novel no-stop FLNA mutation causes multi-organ involvement in males.
American journal of medical genetics. Part A - 1 Sept 2013
Oegema Renske, Hulst Jessie M, Theuns-Valks Sabine D M, van Unen Leontine M A, Schot Rachel, Mancini Grazia M S, Schipper Marguerite E I, de Wit Marie C Y, Sibbles Barbara J, de Coo Irenaeus F M, Nanninga Veerle, Hofstra Robert M W, Halley Dicky J J, Brooks Alice S
Abstract excerpt
Mutations in FLNA (Filamin A, OMIM 300017) cause X-linked periventricular nodular heterotopia (XL-PNH). XL-PNH-associated mutations are considered lethal in hemizygous males. However, a few males with unusual mutations (including distal truncating and hypomorphic missense mutations), and somatic mosaicism have been reported to survive past infancy. Two brothers had an atypical presentation with failure to thrive...
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