Bilateral congenital or childhood onset cataracts

Gene: ADD3

Red List (low evidence)

PMID: 29768408 - Gonçalves et al 2018 reports 1 proband with childhood onset bilateral cataracts as part of a syndromic presentation including intellectual disability, microcephaly and skeletal defects. WES identified ADD3 compound heterozygous variants - c.86A>G, p.N29S; c.1588G>A, p.V530I (both on the same allele in the mother), c.995A>G, p.N332S (heterozygous in the father).

They also report an additional 3 siblings in another family with both ADD3 and KAT2B variants also presented with bilateral cataracts from early childhood along with further syndromic features of ID, skeletal defects, cardiac and renal abnormalities.
Sources: Literature

Created: 5 Nov 2024, 2:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cataract, MONDO:0005129; Cataract, HP:0000518

Publications

• 29768408