Table 1 Clinical and molecular characteristics of families.
Family (Individual) | Age | Sex | Variant (Genomic coordinate [hg38]) | Segregation | Cataracts | Microphthalmia | Other ocular features | Systemic features |
|---|---|---|---|---|---|---|---|---|
1 (II.1) | 7m | F | c.64G>A; p.(Gly22Ser) (Chr1:147908019) | De novo | +(B) | – | – | – |
2 (II.1) | 19y | M | c.116C>T; p.(Thr39Met) (Chr1:147908071) | Unknown | +(B) | – | – | – |
3 (I.2) | 45y | F | c.130G>A; p.(Val44Met) (Chr1:147908085) | AD | +(B) | – | Glaucoma, nystagmus | – |
3 (II.1) | 18y | F | +(B) | – | Glaucoma, nystagmus, astigmatism | – | ||
3 (II.2) | 13y | M | +(B) | – | Glaucoma | – | ||
4 (II.1) | 1y | F | c.196T>G; p.(Tyr66Asp) (Chr1:147908151) | De novo | +(B) | +(B) | Esotropia, nystagmus, amblyopia | – |
5 (II.1) | 5y | F | c.200A>G; p.(Asp67Gly) (Chr1:147908155) | Unknown | +(B) | – | Nystagmus | – |
6 (II.1) | 7y | F | c.226C>T; p.(Arg76Cys) (Chr1:147908181) | Unknown | +(B) | +(B) | Nystagmus, esotropia, glaucoma | Hypodontia, microcephaly, sensorineural hearing loss, developmental delay, white matter lesions in brain, dysuria, sacral dimples, poor weight gain |
7 (II.1) | 3y | F | c.263C>T; p.(Pro88Leu) (Chr1:147908218) | De novo | +(B) | + (R) | – | Mild incurving on fourth and fifth toes (also present in mother and grandmother) |
8 (I.1) | 64y | M | c.281G>A; p.(Gly94Glu) (Chr1:147908236) | AD | +(B) | +(B) | Glaucoma | – |
8 (II.1) | 16y | M | +(B) | +(B) | Glaucoma | – | ||
8 (II.2) | 14y | M | +(B) | +(B) | Glaucoma | – | ||
9 (II.1) | 3y | M | c.281G>A; p.(Gly94Glu) (Chr1:147908236) | Unknown | +(B) | +(B) | – | Small corpus callosum, lambdoidal craniosynostosis |
10 (II.1) | 8y | M | c.280G>C; p.(Gly94Arg) (Chr1:147908235) | De novo | Unknown | +(B) | Sclerocornea | Right kidney aplasia |
11 (II.2) | 45y | F | c.293A>G; p.(His98Arg) (Chr1:147908248) | AD | +(B) | – | Strabismus, nystagmus, mild bilateral intraocular haemorrhage | – |
11 (III.2) | 25y | M | +(B) | – | Myopia, glaucoma | Congenital deafness, dyslexia, dysorthographia, ADHD, benign infantile epilepsy | ||
12 (II.2) | 1y | M | c.565C>T; p.(Pro189Ser) (Chr1:147908520) | De novo | +(B) | – | – | – |
13 (I.2) | 36y | F | c.592C>T; p.(Arg198Trp) (Chr1:147908547) | AD | +(B) | – | Microcornea, nystagmus, glaucoma | Missing two lateral incisors |
13 (II.1) | 4y | M | +(B) | +(B) | Microcornea, nystagmus | Mild microcephaly, speech delay | ||
13 (II.2) | 2y | F | +(B) | +(B) | Microcornea, nystagmus, esotropia | Mild microcephaly, mild gross motor delay | ||
14 (II.1) | 17y | M | 1q21 microdeletion (GJA8) (Chr1:146020242-147909267) | De novo | +(B) | – | High myopia | – |
15 (II.1) | 11y | F | 1q21 microdeletion (GJA8) (Chr1:145516559-149951620) | Unknown | +(B) | – | Left optic nerve drusen at age 7, bilateral central corneal lamellar opacities | – |
