ArticleInternal medicine (Tokyo, Japan)2026
Dual Renal and Cardiac Phenotypes Associated with Rare Variants Inherited from Both Parents.
Article in Internal medicine (Tokyo, Japan), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We herein report a woman with autosomal dominant Alport syndrome (ADAS) with a family history of left ventricular noncompaction cardiomyopathy (LVNC). Exome sequencing identified a rare heterozygous variant in COL4A4, NM_000092.5: c.2510G>C (p.G837A), and a novel heterozygous variant in ACTC1, NM_005159.5: c.922T>C (p.Y308H), as causes of ADAS and LVNC, respectively. The cardiac phenotype was presumed to have been inherited paternally, whereas the renal phenotype was assumed to be maternally inherited. These two variants independently contributed to clinical phenotypes. This case highlights the clinical significance of comprehensive genetic testing for facilitating the precise diagnosis of rare and complex hereditary disorders.
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