Fig. 1

Fig. 1 Phenotypes associated with variants in NR6A1.

a Pedigrees of three families (COL005; COL034; COL171) from the NEI cohort demonstrating coloboma with or without microphthalmia and cataract, missing vertebrae, and congenital renal anomalies. Inheritance is autosomal dominant with incomplete penetrance and variable expressivity. b Linear pigmentary disturbance representing a forme fruste of coloboma (arrow) in COL005.1 (right eye). c Larger chorioretinal coloboma in the left eye of COL005.1 demonstrating a retinal tear in the far periphery (arrowhead). d Iris coloboma of the left eye of COL005.10. e Microphthalmia of the left eye in COL034.1. f Retro-illumination image of the left eye of COL171.1 demonstrating iris coloboma and posterior subcapsular cataract (open arrow). g Spine x-ray of COL005.4 demonstrating 11 thoracic (normal 12) and 4 lumbar (normal 5) vertebrae. h Schematic of NR6A1 variants detected in the NEI and UK Genomics England cohorts. + individual with variant, − individual without variant. DNA binding domain (DBD) and putative nuclear receptor ligand binding domain (NR-LBD) are noted (Q15406; InterPro).