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Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.

Genes - 29 Aug 2021

Shao Zhuo, Masuho Ikuo, Tumber Anupreet, Maynes Jason T, Tavares Erika, Ali Asim, Hewson Stacy, Schulze Andreas, Kannu Peter, Martemyanov Kirill A, Vincent Ajoy

Abstract excerpt

Identifying multiple ultra-rare genetic syndromes with overlapping phenotypes is a diagnostic conundrum in clinical genetics. This study investigated the pathogenicity of a homozygous missense variant in GNB5 (GNB5L; NM_016194.4: c.920T > G (p. Leu307Arg); GNB5S; NM_006578.4: c.794T > G (p. Leu265Arg)) identified through exome sequencing in a female child who also had 3-methylcrotonyl-CoA carboxylase (3-MCC)...

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Identifiers

PMID: 34573334
DOI: 10.3390/genes12091352
PMCID: PMC8469011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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