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• W2937587277 abstract "Hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) is characterized by impaired development of the hair, teeth, or sweat glands. HED/EDA is inherited in an X-linked, autosomal dominant, or autosomal recessive pattern and caused by the pathogenic variants in 4 genes: <i>EDA</i>, <i>EDAR</i>, <i>EDARADD</i>, and <i>WNT10A</i>. The aim of the present study was to perform molecular screening of these 4 genes in a cohort of Turkish individuals diagnosed with HED/EDA. We screened for pathogenic variants of <i>WNT10A</i>, <i>EDA</i>, <i>EDAR</i>, and <i>EDARADD</i> through Sanger sequencing. We further assessed the clinical profiles of the affected individuals in order to establish phenotype-genotype correlation. In 17 (63%) out of 27 families, 17 pathogenic variants, 8 being novel, were detected in the 4 well-known ectodermal dysplasia genes. <i>EDAR</i> and <i>EDA</i> variants were identified in 6 families each, <i>WNT10A</i> variants in 4, and an <i>EDARADD</i> variant in 1, accounting for 35.3, 35.3, 23.5, and 5.9% of mutation-positive families, respectively. The low mutation detection rate of the cohort and the number of the <i>EDAR</i> pathogenic variants being as high as the <i>EDA</i> ones were the most noteworthy findings which could be attributed to the high consanguinity rate." @default.
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• W2937587277 date "2019-01-01" @default.
• W2937587277 modified "2023-10-17" @default.
• W2937587277 title "Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families" @default.
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• W2937587277 doi "https://doi.org/10.1159/000499325" @default.
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