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

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); &l...

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Bibliographic Details
Main Authors:	Zhuo Shao, Ikuo Masuho, Anupreet Tumber, Jason T. Maynes, Erika Tavares, Asim Ali, Stacy Hewson, Andreas Schulze, Peter Kannu, Kirill A. Martemyanov, Ajoy Vincent
Format:	Article
Language:	English
Published:	MDPI AG 2021-08-01
Series:	Genes
Subjects:	guanine nucleotide binding protein (G-protein), beta5 human receptors, G-protein-coupled electroretinography metabolism, inborn errors whole exome sequencing
Online Access:	https://www.mdpi.com/2073-4425/12/9/1352

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https://www.mdpi.com/2073-4425/12/9/1352

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

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