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Table 1 Differential diagnosis of BCS: autosomal recessive connective tissue disorders with blue sclera and thin cornea

From: Brittle cornea syndrome: recognition, molecular diagnosis and management

Condition / phenotype OMIM Gene Protein OMIM
BCS 229200 ZNF469 Zinc finger protein 469 612078
614170 PRDM5 PR domain containing 5 614161
EDS VI 225400 PLOD1 Lysyl hydroxylase 1 153454
EDS, musculocontractural type 601776 CHST14 Carbohydrate sulfotransferase 14 608429
EDS with progressive kyphoscoliosis, myopathy and hearing loss 614557 FKBP14 FK506 binding protein 14 614505
Bone fragility with contractures, arterial rupture and deafness 612394 PLOD3 Lysyl hydroxylase 3 603066
Spondylocheiro dysplastic type of EDS 612350 SLC39A13 ZIP3 608735
  1. Other, rare, autosomal recessive forms of Ehlers Danlos syndrome (EDS) and osteogenesis imperfecta (OI) have also been characterised, but these would be unlikely to present within the differential diagnosis of BCS, for example the dermatosparactic form of EDS (VIIc, OMIM 604539, due to mutations in ADAMTS2[39]) has dramatic skin manifestations not seen to date in BCS patients, whilst the extremely rare patients with recessive OI due to biallelic mutations in collagen I or V genes have usually had severe bone fragility and again no dramatic eye phenotype reported. Recessive CRTAP mutations also appear to result in severe bone phenotypes but without significant ophthalmic complications [40], making it likely that these severe recessive OI presentations would be able to be differentiated from BCS.
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