Autosomal recessive myopathy associated with cataracts and learning difficulties caused by INPP5K mutations: a new syndromic gene linking four overlapping rare recessive neuromuscular disorders


INPP5K encodes the type II inositol polyphosphate 5-phosphatase K, an endoplasmic reticulum (ER) associated skeletal muscle-enriched inositol phosphatase localizing to both the ER and to actin ruffles. It has been shown to regulate myoblast differentiation and has also been implicated in protein processing through its interaction with the ER chaperone BiP. Recently, we reported on recessive missense mutations in INPP5K causative for a congenital myopathy complicated by bilateral early cataracts and learning difficulties (Wiessner et al., 2017; Am J Hum Genet).


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