Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Zeynep Esener, Mehmet Akif Yücesoy, Alper Gezdirici, Mustafa Dogan, Ayberk Turkyilmaz, Ibrahim Tekedereli, Hasan Bas, Aysel Tekmenuray-Unal, Sinem Kocagil, Senol Citli, Murat Ozturk, Emine Ipek Ceylan, Volkan Karaman, Ayca Dilruba Aslanger
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引用次数: 0

Abstract

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. 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.

32例少汗性外胚层发育不良的表型和基因型分析。
少汗性外胚层发育不良是一种影响外胚层衍生结构(如头发、牙齿、指甲和汗腺)的遗传疾病,由EDA、EDAR、EDARADD和WNT10A基因变异引起。本研究检查了来自25个不相关的基耶病家族的32例病例,确定了EDA、EDAR和WNT10A基因的7个新变体。遗传改变在整个队列中的分布显示,44%的家庭(11/25)携带EDA变异,而EDAR和WNT10A变异分别在32%(8/25)和24%(6/25)的家庭中被发现。临床评价显示87.5%的病例表现为特征性的少汗性外胚皮发育不良,伴有毛少、齿少和少汗,并伴有皮肤干燥、特应性皮炎和发育迟缓等症状。所有病例均表现为头发、眉毛和睫毛异常,严重程度从轻微变薄到明显的毛少不等。在队列中,1例以严重特应性皮炎为主要症状。采用靶向下一代测序和临床外显子组测序来确定疾病的遗传基础,强调早期诊断对靶向干预的重要性。本研究扩展了少汗性外胚层发育不良的遗传和表型谱,全面概述了土耳其人群的分子发现和基因型-表型相关性。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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