Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

ABSTRACT: Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual impairment. While non-coding regulatory sequences are increasingly recognised as contributing to disease burden, characterising their impact on gene function and phenotype remains challenging. Furthermore, little is known of the nature and extent of their contribution to AMC phenotypes. We report two families with variants in or near MAB21L2, a gene where genetic variants are known to cause AMC in humans and animal models. The first proband, presenting with microphthalmia and coloboma, has a likely pathogenic missense variant (c.338 G > C; p.[Trp113Ser]), segregating within the family. The second individual, presenting with microphthalmia,

SUBMITTER: Ceroni F 

PROVIDER: S-EPMC11511899 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature