Description of a New GLA Gene Variant in a Patient with Hypertrophic
            Cardiomyopathy. Is it Fabry Disease?

Bittencourt, Marcelo Imbroinise

doi:10.5935/abc.20190126

Cited by 1 publication

(1 citation statement)

References 7 publications

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“…This variant has been detected in other patients with hypertrophic cardiomyopathy, Fabry disease, angiokeratoma corporis diffusum, and sudden unexplained death ( Table S3 ). Other published case studies have shown that loss-of-function variants in GLA are associated with hypertrophic cardiomyopathy [ 54 ]. The difference in phenotype between our patient and previously reported cases with the same variant highlights the difficulty of establishing genotype–phenotype correlations and, consequently, establishing a genetic diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry

Okashah

Vasudeva²,

Jerbi

et al. 2022

Genes

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Congenital heart disease (CHD) is one of the most common forms of birth defects worldwide, with a prevalence of 1–2% in newborns. CHD is a multifactorial disease partially caused by genetic defects, including chromosomal abnormalities and single gene mutations. Here, we describe the Sidra Cardiac Registry, which includes 52 families and a total of 178 individuals, and investigate the genetic etiology of CHD in Qatar. We reviewed the results of genetic tests conducted in patients as part of their clinical evaluation, including chromosomal testing. We also performed whole exome sequencing (WES) to identify potential causative variants. Sixteen patients with CHD had chromosomal abnormalities that explained their complex CHD phenotype, including six patients with trisomy 21. Moreover, using exome analysis, we identified potential CHD variants in 24 patients, revealing 65 potential variants in 56 genes. Four variants were classified as pathogenic/likely pathogenic based on the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) classification; these variants were detected in four patients. This study sheds light on several potential genetic variants contributing to the development of CHD. Additional functional studies are needed to better understand the role of the identified variants in the pathogenesis of CHD.

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Section: Discussionmentioning

confidence: 99%