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Article

Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.

American journal of medical genetics. Part A - 1 Oct 2022

Sharova Margarita, Guseva Darya, Kurenkov Alexey, Novoselova Olga, Murtazina Aysylu, Skoblov Mikhail

Abstract excerpt

We present a patient with congenital myopathy and an inborn epiphysiolysis of the ulna. Whole-exome sequencing analysis revealed two novel mutations in Activation Signal Cointegrator Complex 1 (ASCC1) gene in a compound heterozygous state-a splicing variant c.395-2A>G and a deletion of the first two coding exons. Homozygous and compound heterozygous LoF variants in ASCC1 gene lead to a severe phenotype of spinal...

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PMID: 35838082
DOI: 10.1002/ajmg.a.62898

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