Article
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
European journal of human genetics : EJHG - 1 Oct 2023
Kesim Yesim, Ceroni Fabiola, Damián Alejandra, Blanco-Kelly Fiona, Ayuso Carmen, Williamson Kathy, Paquis-Flucklinger Véronique, Bax Dorine A, Plaisancié Julie, Rieubland Claudine, Chamlal Mostafa, Cortón Marta, Chassaing Nicolas, Calvas Patrick, Ragge Nicola K
Abstract excerpt
Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies. Some individuals can display variable neurodevelopmental features, but the relationship to the ALDH1A3 variants remains unclear. Here, we describe seven unrelated families with biallelic pathogenic ALDH1A3 variants: four compound heterozygous and three homozygous....
Topics
- Humans
- Microphthalmos
- Anophthalmos
- Mutation
- Aldehyde Oxidoreductases
- Eye Abnormalities
- Phenotype