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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.

ABSTRACT: 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.

SUBMITTER: D'Amico A 

PROVIDER: S-EPMC7530278 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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

D'Amico Adele A   Fattori Fabiana F   Nicita Francesco F   Barresi Sabina S   Tasca Giorgio G   Verardo Margherita M   Pizzi Simone S   Moroni Isabella I   De Mitri Francesca F   Frongia Annalia A   Pane Marika M   Mercuri Eugenio E   Tartaglia Marco M   Bertini Enrico E  

Frontiers in genetics 20200918

Inositol polyphosphate-5-phosphatase K [<i>INPP5K</i> (MIM: 607875)] acts as a PIP<sub>3</sub> 5-phosphatase and regulates actin cytoskeleton, insulin, and cell migration. Biallelic pathogenic variants in <i>INPP5K</i> 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 b  ...[more]

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