Congenital or childhood cataract is a clinically and genetically highly heterogeneous lens disorder, with autosomal dominant inheritance being most common. Non-syndromic congenital cataracts have an estimated frequency of 1–6 per 10 000 live births,¹ with one third of cases familial. Underlying mutations have identified 14 genes involved in the pathogenesis of isolated inherited cataract, including seven genes coding for crystallins (CRYAA, CRYAB, CRYBA1/A3, CRYBB1, CRYBB2, CRYGC, CRYGD), two for gap junctional channel protein (GJA3 and GJA8), two for lens membrane protein (LIM2 and MIP), one for beaded filament structural protein 2 (BFSP2), and one for glucosaminyl (N-acetyl) transferase 2 (GCNT2), one for heat shock transcription factor (HSF4). Here we report two novel heterozygous mutations in the GJA8 and GJA3 genes, in two Chinese families affected by autosomal dominant congenital nuclear cataracts.

Case report

We studied two Chinese three generation nuclear cataract families with a dominant pattern of inheritance. Clinical information and blood specimens were obtained from 16 members of family A (seven affected and nine unaffected), and 13 members of family B (nine affected and four unaffected). All participants had a full ocular assessment to document the phenotype. The phenotype of two families was characterised by bilateral nuclear cataract that was present at birth or developed during infancy. There was no evidence of other systemic or ocular defects.

After obtaining …