Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases

Basit Öğe Kaydı
dc.contributor.authorEsener, Zeynep
dc.contributor.authorYuecesoy, Mehmet Akif
dc.contributor.authorGezdirici, Alper
dc.contributor.authorDogan, Mustafa
dc.contributor.authorTurkyilmaz, Ayberk
dc.contributor.authorTekedereli, Ibrahim
dc.contributor.authorBas, Hasan
dc.date.accessioned2026-04-04T13:33:23Z
dc.date.available2026-04-04T13:33:23Z
dc.date.issued2026
dc.departmentİnönü Üniversitesi
dc.description.abstractHypohidrotic 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 T & uuml;rkiye, 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. Clinical evaluation revealed the characteristic hypohidrotic ectodermal dysplasia triad of hypotrichosis, hypodontia, and hypohidrosis was observed in 87.5% of cases, along with other symptoms such as dry skin, atopic dermatitis, and developmental delays. All cases presented with hair, eyebrow, and eyelash abnormalities, ranging in severity from subtle thinning to marked hypotrichosis. Among the cohort, one case exhibited severe atopic dermatitis as the predominant symptom. Targeted next-generation sequencing and clinical exome sequencing were employed to determine the genetic basis of the condition, emphasizing the importance of early diagnosis for targeted interventions. This study expands the genetic and phenotypic spectrum of hypohidrotic ectodermal dysplasia, presenting a comprehensive overview of molecular findings and genotype-phenotype correlations in the population from the Turkish population.
dc.identifier.doi10.1111/cge.70030
dc.identifier.endpage129
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.issue1
dc.identifier.orcid0000-0003-2595-3919
dc.identifier.orcid0000-0001-6226-4712
dc.identifier.orcid0000-0003-0464-6565
dc.identifier.orcid0000-0002-8716-3288
dc.identifier.orcid0000-0002-3300-8020
dc.identifier.orcid0000-0001-8730-3968
dc.identifier.orcid0000-0001-9647-8970
dc.identifier.pmid40701644
dc.identifier.scopus2-s2.0-105011828999
dc.identifier.scopusqualityQ2
dc.identifier.startpage122
dc.identifier.urihttps://doi.org/10.1111/cge.70030
dc.identifier.urihttps://hdl.handle.net/11616/109110
dc.identifier.volume109
dc.identifier.wosWOS:001533574500001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofClinical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250329
dc.subjectectodermal dysplasias
dc.subjectEDA
dc.subjectEDAR
dc.subjecthypohidrotic ectodermal dysplasias
dc.subjectWNT10A
dc.titleHypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases
dc.typeArticle

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu