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Wiessner, M.* ; Roos, A.* ; Munn, C.J.* ; Viswanathan, R.* ; Whyte, T.* ; Cox, D.* ; Schoser, B.* ; Sewry, C.* ; Roper, H.P.* ; Phadke, R.* ; Marini Bettolo, C.* ; Barresi, R.* ; Charlton, R.* ; Bönnemann, C.G.* ; Abath Neto, O.* ; Reed, U.C.* ; Zanoteli, E.* ; Araújo Martins Moreno, C.* ; Ertl-Wagner, B.* ; Stucka, R.* ; de Goede, C.G.* ; Borges da Silva, T.* ; Hathazi, D.* ; Dell'Aica, M.* ; Zahedi, R.P.* ; Thiele, S.* ; Müller, J.* ; Kingston, H.M.S.* ; Müller, S.* ; Curtis, E.* ; Walter, M.C.* ; Strom, T.M. ; Straub, V.* ; Bushby, K.* ; Muntoni, F.* ; Swan, L.E.* ; Lochmüller, H.* ; Senderek, J.*

Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment.

Am. J. Hum. Genet. 100, 523-536 (2017)

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Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weakness from birth with variable eye and central nervous system involvement. In individuals exhibiting congenital muscular dystrophy, early-onset cataracts, and mild intellectual disability but normal cranial magnetic resonance imaging, we identified bi-allelic mutations in INPP5K, encoding inositol polyphosphate-5-phosphatase K. Mutations impaired phosphatase activity toward the phosphoinositide phosphatidylinositol (4,5)-bisphosphate or altered the subcellular localization of INPP5K. Downregulation of INPP5K orthologs in zebrafish embryos disrupted muscle fiber morphology and resulted in abnormal eye development. These data link congenital muscular dystrophies to defective phosphoinositide 5-phosphatase activity that is becoming increasingly recognized for its role in mediating pivotal cellular mechanisms contributing to disease.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Cognitive Impairment ; Congenital Muscular Dystrophy ; Early Cataracts ; Inpp5k ; Phosphoinositide Phosphatase; Marinesco-sjogren-syndrome; Polyphosphate Phosphatase Skip; Unfolded Protein Response; Endoplasmic-reticulum; Membrane Trafficking; Signal-transduction; Skeletal-muscle; Myopathy; Gene; Disease

ISSN (print) / ISBN 0002-9297

e-ISSN 1537-6605

Journal American Journal of Human Genetics, The

Quellenangaben Volume: 100, Issue: 3, Pages: 523-536

Publisher Elsevier

Publishing Place New York, NY

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)