Genetics Research / 2023 / Article / Tab 1 / Research Article
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family Table 1 The clinical features observed in the current family and those reported in previous families.
Clinical features Present study [15 ] Syed et al. 2015 [20 ] [12 ] [5 ] [14 ] [21 ] [22 ] Alshami 2015 Age (years) at last examination 30–38 N/a 25–35 N/a N/a 9–40 2 2.5 N/a 12–18 Sex 2F 2M 9F 6M 2F 1M 3F 1M 7F 3M 4F 2M 1F 1F 2F 1M 1M 1F Alopecia (P/C) +(P) +(P) +(P) +(P) +(C) +(C) +(P) +(P) +(P) +(P) +(P) +(P) +(P) +(P) +(P) +(P) + + Hypodontia — — — — + + — — — — — — — — — — — — Enamel hypoplasia + + + + + + + + + + + + + + + + + + Spaced teeth + + + + + + + + + + + + + + + + + + Discolored nail plate + + + + + + + + + + — — — — — — + + Hyperkeratosis + + + + + + + + + + — — — + — — + + Cutaneous syndactyly + + + + + + + + + + + + + + + + + + Fingers 3-4 3-4 2-3-4 2-3-4 2-3-4 2-3-4 2-3-4 2-3-4 3-4 3-4 2-3, 3-4 2-3-4 — 2-3 2-3-4 2-3-4 3-4 3-4 Toes 2-3 2-3 2-5 2-3 2-3-4-5 2-3-4-5 2-3-4-5 2-3-4-5 2-3 2-3 2-3-4-5 2-3-4-5 2-3-4 3–5 2-3-4-5 2-3-4-5 2-3 2-3 Heat intolerance + + + + + + + + N/a N/a — — + + + + + + Upper lip clift — + — — — — — — — — — — — — — — — — Hearing disorder — — — — — — — — — — — — — _ — — + + Respiratory infection — — — — — — — — — — — — — — — — — — Intellectual disability — — — — — — — — — — — — — — — — — — Facial dysmorphism — — — — — — — — — — — — — — — — — — Deformed pinnae + + — — + + + + + + + + — — — — + + Limitation in joint movement — — — — — — — — — — — — — — — — — — Learning difficulties — — — — — — — — — — — — — — — — — — Sweating Less Less Less Less Normal Normal Normal Normal Normal Normal Normal Normal Less Less Less Less Less Less