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Article

Dual Renal and Cardiac Phenotypes Associated with Rare Variants Inherited from Both Parents.

Internal medicine (Tokyo, Japan) - 1 May 2026

Aida Ryo, Watanabe Hirofumi, Shiiya Takamitsu, Sakurazawa Chihiro, Otsuka Tadashi, Goto Shin, Yamamoto Suguru

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41033995
DOI: 10.2169/internalmedicine.6003-25
PMCID: PMC13222701

Genes

ACTC1
COL4A4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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