We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 ( gene) and type 6 ( gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the gene and an unclassified variant, most likely pathogenic, of the gene. This digenic inheritance is extremely rare.
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http://dx.doi.org/10.1155/2019/1384139 | DOI Listing |
J Clin Endocrinol Metab
January 2025
IMAGINE Institute Affiliate, INSERM U1163, Paris, France.
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.
Objectives: Gain insight into the inheritance mode of CHTD.
Neurol Genet
February 2025
Department of Neurology and.
Objectives: To report a case of adult-onset non-dystrophic myotonia complicated by recurrent episodes of laryngospasm.
Methods: The patient is a 35-year-old man who was admitted to our hospital for recurrent episodes of apnea requiring endotracheal intubation with mechanical ventilation. He underwent extensive evaluation, including EMG, laryngoscopy, muscle biopsy, and genetic testing, which revealed a diagnosis of non-dystrophic myotonia.
We present a family with two male siblings diagnosed with a newly described digenic myopathy, involving likely pathogenic loss-of-function variants in the SRPK3 and TTN genes: hemizygous p.(Pro68ArgfsTer55) and heterozygous p.(Trp14174Ter), respectively.
View Article and Find Full Text PDFHGG Adv
January 2025
Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. Electronic address:
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