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Article

Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants.

QJM : monthly journal of the Association of Physicians - 1 Mar 2026

Owrang Daniel, Rad Aboulfazl, Cretu Constantin, Lin Sheng-Jia, Mustafa Hafiz Muhammad, Huang Kevin, Waheed Nadia, Hussain Maqbool, Riaz Sadia, Preobraschenski Julia, Varshney Gaurav K, Oprea Gabriela, Vona Barbara

Abstract excerpt

BACKGROUND: The relationship between observed clinical phenotypes and underlying genotypes is blended or skewed in multiple molecular diagnoses, complicating a comprehensive molecular genetic diagnosis. AIM: We report two families with dual diagnoses, using the deafness-associated gene, COL4A6, to exemplify its contribution to blended, complex clinical presentations. DESIGN: This is an observational study within...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41092388
DOI: 10.1093/qjmed/hcaf246
PMCID: PMC13070642

Genes

COL4A6
DYM
HEXA

Variants

Provenance

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

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