Article
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
American journal of human genetics - 7 Dec 2012
Haack Tobias B, Hogarth Penelope, Kruer Michael C, Gregory Allison, Wieland Thomas, Schwarzmayr Thomas, Graf Elisabeth, Sanford Lynn, Meyer Esther, Kara Eleanna, Cuno Stephan M, Harik Sami I, Dandu Vasuki H, Nardocci Nardo, Zorzi Giovanna, Dunaway Todd, Tarnopolsky Mark, Skinner Steven, Frucht Steven, Hanspal Era, Schrander-Stumpel Connie, Héron Delphine, Mignot Cyril, Garavaglia Barbara, Bhatia Kailash, Hardy John, Strom Tim M, Boddaert Nathalie, Houlden Henry H, Kurian Manju A, Meitinger Thomas, Prokisch Holger, Hayflick Susan J
Abstract excerpt
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype. The clinical features include early-onset global developmental delay and...
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