Genetics Research

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 featuresPresent study[15]Syed et al. 2015[20][12][5][14][21][22]Alshami 2015
Age (years) at last examination30–38N/a25–35N/aN/a9–4022.5N/a12–18
Sex2F2M9F6M2F1M3F1M7F3M4F2M1F1F2F1M1M1F
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++++++++++++++++++
Fingers3-43-42-3-42-3-42-3-42-3-42-3-42-3-43-43-42-3, 3-42-3-4—2-32-3-42-3-43-43-4
Toes2-32-32-52-32-3-4-52-3-4-52-3-4-52-3-4-52-32-32-3-4-52-3-4-52-3-43–52-3-4-52-3-4-52-32-3
Heat intolerance++++++++N/aN/a——++++++
Upper lip clift—+————————————————
Hearing disorder—————————————_——++
Respiratory infection——————————————————
Intellectual disability——————————————————
Facial dysmorphism——————————————————
Deformed pinnae++——++++++++————++
Limitation in joint movement——————————————————
Learning difficulties——————————————————
SweatingLessLessLessLessNormalNormalNormalNormalNormalNormalNormalNormalLessLessLessLessLessLess