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Article

INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.

Clinical genetics - 1 Mar 2018

Yousaf S, Sheikh S A, Riazuddin S, Waryah A M, Ahmed Z M

Abstract excerpt

Congenital cataract (CC) is clinically and genetically highly heterogeneous. Here, we enrolled a consanguineous kindred (LUCC15) from Pakistan, with 3 affected individuals suffering with CC. Exome sequencing revealed a transition mutation [c.149 T > C; p.(Ile50Thr)] in INPP5K. Inositol polyphosphate-5-phosphatase K, encoded by INPP5K, is involved in dephosphorylation of phosphatidylinositol (PtdIns)...

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PMID: 28940338
DOI: 10.1111/cge.13143

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