PuSH - Publication Server of Helmholtz Zentrum München: Exome sequencing reveals de novo <em>WDR45</em> mutations causing a phenotypically distinct, x-linked dominant form of NBIA.

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Haack, T.B. ; Hogarth, P.* ; Kruer, M.C.* ; Gregory, A.* ; Wieland, T. ; Schwarzmayr, T. ; Graf, E. ; Sanford, L.* ; Meyer, E.* ; Kara, E.* ; Cuno, S.M. ; Harik, S.I.* ; Dandu, V.H.* ; Nardocci, N.* ; Zorzi, G.* ; Dunaway, T.* ; Tarnopolsky, M.* ; Skinner, S.* ; Frucht, S.* ; Hanspal, E.* ; Schrander-Stumpel, C.* ; Heron, D.* ; Mignot, C.* ; Garavaglia, B.* ; Bhatia, K.* ; Hardy, J.* ; Strom, T.M. ; Boddaert, N.* ; Houlden, H.H.* ; Kurian, M.A.* ; Meitinger, T. ; Prokisch, H. ; Hayflick, S.J.*

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, x-linked dominant form of NBIA.

Am. J. Hum. Genet. 91, 1144-1149 (2012)

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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 further neurological deterioration (parkinsonism, dystonia, and dementia developing by early adulthood). Brain MRI revealed evidence of iron deposition in the substantia nigra and globus pallidus. Males and females are phenotypically similar, an observation that might be explained by somatic mosaicism in surviving males and germline or somatic mutations in females, as well as skewing of X chromosome inactivation. This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Autophagy ; Repeat

ISSN (print) / ISBN 0002-9297

e-ISSN 1537-6605

Journal American Journal of Human Genetics, The

Quellenangaben Volume: 91, Issue: 6, Pages: 1144-1149

Publisher Elsevier

Publishing Place New York, NY

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)