Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

doi:10.1016/j.ajhg.2017.01.024

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Article

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

American journal of human genetics - 2 Mar 2017

Wiessner Manuela, Roos Andreas, Munn Christopher J, Viswanathan Ranjith, Whyte Tamieka, Cox Dan, Schoser Benedikt, Sewry Caroline, Roper Helen, Phadke Rahul, Marini Bettolo Chiara, Barresi Rita, Charlton Richard, Bönnemann Carsten G, Abath Neto Osório, Reed Umbertina C, Zanoteli Edmar, Araújo Martins Moreno Cristiane, Ertl-Wagner Birgit, Stucka Rolf, De Goede Christian, Borges da Silva Tamiris, Hathazi Denisa, Dell'Aica Margherita, Zahedi René P, Thiele Simone, Müller Juliane, Kingston Helen, Müller Susanna, Curtis Elizabeth, Walter Maggie C, Strom Tim M, Straub Volker, Bushby Kate, Muntoni Francesco, Swan Laura E, Lochmüller Hanns, Senderek Jan

Abstract excerpt

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...

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PMID: 28190456
DOI: 10.1016/j.ajhg.2017.01.024
PMCID: PMC5339217

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