Journal Article

A multilayered approach to the analysis of genetic data from individuals with suspected albinism

Ramsden, Simon C., Campbell, Christopher, Birney, Ewan, Black, Graeme C., Javerzat, Sophie, Sergouniotis, Panagiotis I., Plaisant, Claudio, Arveiler, Benoit, Michaud, Vincent, Lasseaux, Eulalie

2023

Overview

Albinism is a clinically and genetically heterogeneous group of conditions characterised by visual abnormalities and variable degrees of hypopigmentation. Multiple studies have demonstrated the clinical utility of genetic investigations in individuals with suspected albinism. Despite this, the variation in the provision of genetic testing for albinism remains significant. One key issue is the lack of a standardised approach to the analysis of genomic data from affected individuals. For example, there is variation in how different clinical genetic laboratories approach genotypes that involve incompletely penetrant alleles, including the common, ‘hypomorphic’ TYR c.1205G>A (p.Arg402Gln) [rs1126809] variant. Here, we discuss the value of genetic testing as a frontline diagnostic tool in individuals with features of albinism and propose a practice pattern for the analysis of genomic data from affected families.

• Publisher: BMJ Publishing Group Ltd,BMJ Publishing Group LTD,BMJ Publishing Group
• Subject: Albinism / Albinism - diagnosis / Albinism - genetics / Albinism, Oculocutaneous - diagnosis / Albinism, Oculocutaneous - genetics / Alleles / Decision making / Decision trees / Enzymes / Genes / Genetic analysis / Genetic screening / Genetic Testing / Genetics / Genetics, Medical / Genomic analysis / Genomics / Genotype / Genotypes / Haplotypes / Humans / Life Sciences / Ophthalmology / Pigmentation / Vision Science