A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome |
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Authors: | Farooq Ahmad Abdul Nasir Holger Thiele Muhammad Umair Guntram Borck Wasim Ahmad |
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Affiliation: | 1. Department of Biochemistry, Faculty of Biological Sciences, Quaid‐i‐Azam University, Islamabad, Pakistan;2. Institute of Human Genetics, University of Ulm, Ulm, Germany;3. Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany |
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Abstract: | Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and teeth along with bilateral cutaneous syndactyly of hands and feet. In the present report, we performed a clinical and genetic characterization of a consanguineous Pakistani family with four individuals affected by EDSS1. We performed exome sequencing using DNA of one affected individual. Exome data analysis identified a novel homozygous missense variant (c.242T>C; p.(Leu81Pro)) in NECTIN4 (PVRL4). Sanger sequencing validated this variant and confirmed its cosegregation with the disease phenotype in the family members. Thus, our report adds a novel variant to the NECTIN4 mutation spectrum and contributes to the NECTIN4‐related clinical characterization. |
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Keywords: | consanguinity ectodermal dysplasia syndactyly syndrome 1 EDSS1 homozygous mutation NECTIN4 |
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