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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© Copyright © 2020 D’Amico, Fattori, Nicita, Barresi, Tasca, Verardo, Pizzi, Moroni, De Mitri, Frongia, Pane, Mercuri, Tartaglia and Bertini.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. Affected patients have limb girdle muscle weakness, often associated with bilateral cataracts, short stature, and intellectual disability. Here we report four patients affected by INPP5K-related muscle dystrophy, who were apparently unrelated but originated from the same geographical area in South Italy. These patients manifest a recognizable phenotype characterized by early onset muscular dystrophy associated with short stature and intellectual disability. All affected subjects were homozygous or compound heterozygous for the c.67G > A (p.Val23Met) missense change and shared a common haplotype, indicating the occurrence of a founder effect.
Author(s): D'Amico A, Fattori F, Nicita F, Barresi S, Tasca G, Verardo M, Pizzi S, Moroni I, De Mitri F, Frongia A, Pane M, Mercuri E, Tartaglia M, Bertini E
Publication type: Article
Publication status: Published
Journal: Frontiers in Genetics
Year: 2020
Volume: 11
Online publication date: 18/09/2020
Acceptance date: 18/08/2020
Date deposited: 27/02/2023
ISSN (electronic): 1664-8021
Publisher: Frontiers Media S.A.
URL: https://doi.org/10.3389/fgene.2020.565868
DOI: 10.3389/fgene.2020.565868
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