Journal Article


Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

Abstract

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. All affected individuals had bilateral anophthalmia/microphthalmia (A/M), three with additional intellectual or developmental delay, one with autism and seizures and three with facial dysmorphic features. This study confirms that individuals with biallelic pathogenic ALDH1A3 variants consistently manifest A/M, but additionally display neurodevelopmental features with significant intra- and inter-familial variability. Furthermore, we describe the first case with cataract and highlight the importance of screening ALDH1A3 variants in nonconsanguineous families with A/M.

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Authors

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.

Oxford Brookes departments

Department of Biological and Medical Sciences

Dates

Year of publication: 2023
Date of RADAR deposit: 2023-03-14


Creative Commons License This work is licensed under a Creative Commons Attribution 4.0 International License


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This RADAR resource is Identical to [corrected] Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
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