GENOTYPIC SPECTRUM OF ALBINISM IN MALI

Abstract

ABSTRACTAlbinism 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 20 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 2 with OCA 4.OCA2variant NM_000275.3:c.819_822delinsGGTC was most frequently encountered. Four novel variants were identified (2 inTYR, 2 inOCA2). A deep intronic variant was found to alter splicing of theOCA2RNA by inclusion of a pseudo exon. Of note, theOCA2exon 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.