Table 1 Clinical characteristics of the CLSD patients
ID | cDNA Change | Protein Change | Frequency of the variants in gnomAD | Inheritance Pattern | Gene inheritance Pattern | Ocular abnormality | Systemic abnormality |
|---|---|---|---|---|---|---|---|
1 | c.1144T>C | p.Phe382Leu | NA | Autosomal recessive | Homozygous | Hypertelorism, prominent supraorbital ridge, downslanting palpebral fissures, Y-shaped sutural cataracts | Short stature, wide open calvarial sutures with large and late-closing anterior fontanelles, abnormal hair, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, mid-face hypoplasia, broad and prominent nose, dental abnormalities, long smooth philtrum, and wide mouth with thin upper lip |
2* | c.1200G>C | p.Met400Ile | NA | Autosomal recessive | Homozygous | Hypertelorism, long palpebral fissures, and ptosis | Moderate global developmental delay, tall stature, obesity, macrocephaly, mild dysmorphic features, hypertelorism, maloccluded teeth, intellectual disability, and flat feet |
3 | c.1795G>A | p.Glu599Lys | NA | Autosomal dominant | Heterozygous | Hypertelorism and bilateral glaucoma with exfoliation of the lens capsule | Large fontanelle with wide cranial sutures, large forehead, thin nose, high arched palate, and micrognathia |
4** | c.2104 A>G | p.Met702Val | 3.22e-4 | Autosomal dominant | Heterozygous | Hypertelorism, bilateral exotropia,bilateral optic atrophy, and a double-ring sign | Large anterior fontanelle, valvular pulmonic stenosis, and motor delay |
5 | c.710 A>C c.1946T>C | p.Asp237Ala p.Leu649Pro | NA NA | Autosomal recessive | Compound heterozygous | Hypertelorism, nystagmus, and bilateral congenital total cataracts | Large anterior fontanelle, frontal bossing, abnormal hair, patent foramen ovale, wide nasal bridge, long philtrum, thin vermilion border, pectus excavatum, and developmental retardation |