Congenital muscular dystrophy with cataracts and mild cognitive impairment cause by mutations in INPP5K: Overlapping Marinesco-Sj ögren syndrome and dystroglycanopathy

Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. INPP5K encodes the inositol polyphosphate-5-phosphatase K, also known as SKIP (skeletal muscle and kidney enriched inositol phosphatase), which is highly expressed in the brain and muscle. INPP5K localizes to both the endoplasmic reticulum and to actin ruffles in the cytoplasm. Defects in INPP5A has been recently described as a cause of congenital muscular dystrophy, early-onset cataracts. Here we presented the clinical and pathological features of a patient with homozygous mutation in INPP5A gene.

Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: A. Nascimento, C. Ortez, C. Jou, M. Alarc ón, A. Bates, A. Topf, D. Itzep, D. Natera, A. Frongia, A. Codina, L. Gonzalez, G. Pia, V. Straub, C. Jimenez-Mallebrera, J. Colomer Source Type: research