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Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.
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Departments of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye.
Hypohidrotic ectodermal dysplasias are a genetic condition affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands, resulting from variations in the EDA, EDAR, EDARADD, and WNT10A genes. This study examined 32 cases from 25 unrelated families from Türkiye, identifying seven novel variants in the EDA, EDAR, and WNT10A genes. The distribution of genetic alterations across the cohort revealed that 44% of the families (11/25) harbored variants in EDA, whereas EDAR and WNT10A variants were identified in 32% (8/25) and 24% (6/25) of families, respectively.
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Ectodermal dysplasia (ED) represents a group of genetic disorders affecting the development of ectodermal-derived structures, including teeth, hair, nails, and sweat glands. Ectodermal dysplasia (HED), the most common form, is frequently associated with severe dental anomalies such as hypodontia and aberrant tooth morphology, profoundly affecting oral health and quality of life. We present an Iranian patient due to a novel pathogenic variant in the EDARADD gene.
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The mangrove killifish, Kryptolebias marmoratus, can reproduce with self-fertilisation, offering a unique and useful genetic tool for generation of genetic mutants and quick identification of mutated genes. From an ENU-mutated mangrove killifish line R228, we have isolated a novel mutant line, no-fin-ray/nfr in which homozygous mutant of adult fish fin ray development is largely reduced. Illumina RNAseq with 3 embryos each from mutants, siblings and the parental WT strain Hon9 (only 9 embryos as total) identified a mutation in the edaradd in a highly conserved C-terminal death domain.
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Ital J Pediatr
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Department of Medical Genetics, Sanliurfa Research and Training Hospital, Sanliurfa, Turkey.
Background: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and teeth. While HED can be caused by various genes, the EDA, EDAR, EDARADD, and WNT10A genes account for approximately 90% of cases.
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