Yayınlanmış 1 Ocak 2019
| Sürüm v1
Dergi makalesi
Açık
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families
Oluşturanlar
- 1. Istanbul Univ, Fac Dent, Dept Pedodont, TR-3409 Istanbul, Turkey
- 2. Univ Paris 05, Sorbonne Paris Cite, Hop Univ Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France
- 3. Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey
- 4. Koc Univ, Sch Med, Dept Med Genet, Istanbul, Turkey
- 5. Dentway Dent Care, Pedodont Unit, Istanbul, Turkey
Açıklama
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: EDA, EDAR, EDARADD, and WNT10A. 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 WNT10A, EDA, EDAR, and EDARADD 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. EDAR and EDA variants were identified in 6 families each, WNT10A variants in 4, and an EDARADD 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 EDAR pathogenic variants being as high as the EDA ones were the most noteworthy findings which could be attributed to the high consanguinity rate. (c) 2019 S. Karger AG, Basel
Dosyalar
bib-a82a1037-55f1-43b1-b4e2-0d57ca3c95d7.txt
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