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   Articles with "founder variant" as a keyword



Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant

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recommendations! Published in 2025 at "Scientific Reports"

DOI: 10.1038/s41598-025-08495-0

Abstract: A novel LMNA p.(Glu105Leu) variant was identified in five families with dilated cardiomyopathy (DCM), revealed as a local founder variant originating approximately 650 years ago. Genetic testing and clinical analysis of 795 DCM patients demonstrated… read more here.

Keywords: clinical metabolic; variant; consequences historic; founder variant ... See more keywords

A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis

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recommendations! Published in 2022 at "Clinical Genetics"

DOI: 10.1111/cge.14128

Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of abnormalities affecting morphogenesis of the kidneys and other structures of the urinary tract. Bilateral renal agenesis (BRA) is the most severe presentation… read more here.

Keywords: agenesis; renal agenesis; null founder; founder variant ... See more keywords

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps

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recommendations! Published in 2025 at "European Journal of Neurology"

DOI: 10.1111/ene.16471

Abstract: Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately… read more here.

Keywords: gene associated; ryr1 gene; founder variant; variant ryr1 ... See more keywords

Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity

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recommendations! Published in 2024 at "Neurology: Genetics"

DOI: 10.1212/nxg.0000000000200155

Abstract: Background and Objectives Description of 15 patients with the same variant in DOK7 causing congenital myasthenic syndrome (CMS). Methods Nine adult and 6 pediatric patients were studied with molecular genetic and clinical investigations. Results All… read more here.

Keywords: homozygosity founder; variant 1508dupc; pediatric patients; severity ... See more keywords