SERGOUNIOTIS, Panagiotis I; MICHAUD, Vincent; LASSEAUX, Eulalie; CAMPBELL, Christopher; PLAISANT, Claudio; JAVERZAT, Sophie; BIRNEY, Ewan; RAMSDEN, Simon C; BLACK, Graeme C; ARVEILER, Benoit

doi:10.1136/jmg-2022-109088

MICHAUD, Vincent
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

LASSEAUX, Eulalie
Service de génétique médicale
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

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Journal of Medical Genetics. 2023-11-27, vol. 60, n° 12, p. 1245-1249

Resumen en inglés

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' 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.< Leer menos

Palabras clave en inglés

Humans

Albinism

Oculocutaneous

Genetic Testing

Genotype

Alleles

URI

https://oskar-bordeaux.fr/handle/20.500.12278/188206

DOI

http://dx.doi.org/10.1136/jmg-2022-109088

Proyecto ANR

Approches de génétique moléculaire et fonctionnelle pour déchiffrer les mécanismes physiopathologiques de l'albinisme oculocutané. - ANR-21-CE17-0041

Centros de investigación

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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