A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

Inositol polyphosphate-5-phosphatase K [INPP5K (MIM: 607875)] acts as a PIP3 5-phosphatase and regulates actin cytoskeleton, insulin, and cell migration. Biallelic pathogenic variants in INPP5K have recently been reported in patients affected by a form of muscular dystrophy with childhood onset. Aff...

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Bibliographic Details
Main Authors: Adele D’Amico, Fabiana Fattori, Francesco Nicita, Sabina Barresi, Giorgio Tasca, Margherita Verardo, Simone Pizzi, Isabella Moroni, Francesca De Mitri, Annalia Frongia, Marika Pane, Eugenio Mercuri, Marco Tartaglia, Enrico Bertini
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Genetics
Subjects:
INPP5K
CMD
LGMD
cataract
short stature
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.565868/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.565868/full

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