DIALLO, Modibo; SYLLA, Ousmane; SIDIBÉ, Mohamed Kole; PLAISANT, Claudio; MERCIER, Elina; SEQUEIRA, Angele; JAVERZAT, Sophie; HADID, Abdelaziz; LASSEAUX, Eulalie; MICHAUD, Vincent; ARVEILER, Benoit

doi:10.1111/pcmr.13175

DIALLO, Modibo
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

SYLLA, Ousmane

SIDIBÉ, Mohamed Kole

Idioma

Article de revue

Este ítem está publicado en

2024-05-09

Resumen en inglés

Albinism is a phenotypically and genetically heterogeneous condition characterized by a variable degree of hypopigmentation and by ocular features leading to reduced visual acuity. Whereas numerous genotypic studies have been conducted throughout the world, very little is known about the genotypic spectrum of albinism in Africa and especially in sub-Saharan Western Africa. Here we report the analysis of all known albinism genes in a series a 23 patients originating from Mali. Four were diagnosed with OCA 1 (oculocutaneous albinism type 1), 17 with OCA 2, and two with OCA 4. OCA2 variant NM_000275.3:c.819_822delinsGGTC was most frequently encountered. Four novel variants were identified (two in TYR, two in OCA2). A deep intronic variant was found to alter splicing of the OCA2 RNA by inclusion of a pseudo exon. Of note, the OCA2 exon 7 deletion commonly found in eastern, central, and southern Africa was absent from this series. African patients with OCA 1 and OCA 4 had only been reported twice and once, respectively, in previous publications. This study constitutes the first report of the genotypic spectrum of albinism in a western sub-Saharan country.< Leer menos

Palabras clave en inglés

Albinism

Diagnosis

Functional tests

Mali

Molecular genetics

Pigmentation

Splice variant

Variants

URI

https://oskar-bordeaux.fr/handle/20.500.12278/201350

DOI

http://dx.doi.org/10.1111/pcmr.13175

Centros de investigación

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

Ver/Abrir

Metadatos

Compartir este ítem

Licencia de uso del documento

Genotypic spectrum of albinism in Mali

Idioma

Este ítem está publicado en

Resumen en inglés

Palabras clave en inglés

URI

DOI

Centros de investigación