Nueva variante probablemente patogénica c.1249A&gt;C en el exón 7 del gen GAA asociada a la enfermedad de Pompe del adulto

Bueno, J.C. Roche; Sanchez, Carissa A.; Sotomayor, F. Salgado Álvarez de; Álvarez, Silvia Izquierdo; Gallart, M.D. Miramar; García, Julián

doi:10.1016/j.nrl.2017.02.015

Cited by 1 publication

(2 citation statements)

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“…The GSDs are a group of inherited metabolic disorders resulting from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation [ 7 ]. GSD2 or Pompe disease is a monogenic autosomal recessive disorder caused by a deficiency of α-1,4-glucosidase, an enzyme required for the degradation of lysosomal glycogen [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

“…Pompe disease is purely a neuromuscular form of GSD which does not present with metabolic abnormalities because the lysosomal enzyme defect lies outside intermediary metabolism. Instead, storage of glycogen occurs mainly in skeletal muscle and leads to loss of muscle function [ 7 ]. The clinical presentation of Pompe disease is variable with respect to the age of onset and rate of disease progression.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%