Post-mortem Diagnosis of Pompe Disease by Exome Sequencing in a Moroccan Family: a Case Report

Overview

Journal J Med Case Rep

Publisher Biomed Central

Specialty General Medicine

Date 2018 Oct 30

PMID 30371346

Citations 1

Authors

Najlae Adadi

Maryem Sahli

Gregory Egea

Ilham Ratbi

Mohamed Taoudi

Layla Zniber

Wafaa Jdioui

Said El Mouatassim

Abdelaziz Sefiani

Affiliations

Soon will be listed here.

Abstract

Background: Pompe 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 Presentation: In 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.

Conclusion: The 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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