Novel probable pathological variant c.1249A&gt;C in exon 7 of the GAA gene associated with Pompe disease in adults

BackgroundPompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy. Its prevalence ranges between 1/9000 and 1/40,000. It is caused by compound heterozygous or homozygous mutations in the GAA gene, which encodes for the lysosomal enzyme alpha-glucosidase, required for the degrading of lysosomal glycogen.Case presentationIn this study, we report the case of a Moroccan consanguineous family with hypertrophic cardiomyopathy and sudden cardiac deaths at an early age; our patient was a 7-month-old Moroccan girl. Whole exome sequencing identified the deleterious homozygous mutation c.236_246delCCACACAGTGC (p.Pro79ArgfsX13) of GAA gene leading to a post-mortem diagnosis of Pompe disease.ConclusionThe identification of the genetic substrate in our patient, the daughter, confirmed the clinical diagnosis of Pompe disease and allowed us to provide appropriate genetic counseling to the family for future pregnancies.

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Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

Adadi

Sahli

Egéa³

et al. 2018

J Med Case Reports

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Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults

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References 10 publications

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

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