Patient | Lens phenotype | Other features | Development | Deletion | Genes involved |
---|---|---|---|---|---|
Patient 1 | Bilateral dense central congenital cataracts; extraction at ~2 months of age | Borderline microcephaly (3rd centile), mild asymmetry of the palpebral fissures, left nasolacrimal duct obstruction, hypotelorism, somewhat widely-spaced nipples | WNL | 97.9 kb homozygous deletion of 6p24.3 | The first coding exons of GCNT2A and GCNT2B, two 5’noncoding exons of GCNT2A, and a part of the region upstream of TFAP2A |
Patient 2 | Bilateral dense central congenital cataracts; extraction at ~2 months of age | None | WNL | 97.9 kb homozygous deletion of 6p24.3 | The first coding exons of GCNT2A and GCNT2B, two 5’noncoding exons of GCNT2A, and a part of the region upstream of TFAP2A |