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Table 1 Phenotype and genotype information of the affected patients

From: Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract

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