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Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients
- Source :
- Genes; Volume 7; Issue 9; Pages: 65, Genes, Genes, Vol 7, Iss 9, p 65 (2016)
- Publication Year :
- 2016
- Publisher :
- Multidisciplinary Digital Publishing Institute, 2016.
-
Abstract
- Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the teeth, hair, and sweat glands. Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the relationship between WNT10A and HED has not yet been validated. In this study, we included patients who presented at least two of the three ectodermal dysplasia features. The four genes were analyzed in seven HED patients by PCR and Sanger sequencing. Five EDA and one EDAR heterozygous mutations were identified in families 1–6. Two WNT10A heterozygous mutations were identified in family 7 as a compound heterozygote. c.662G>A (p.Gly221Asp) in EDA and c.354T>G (p.Tyr118*) in WNT10A are novel mutations. Bioinformatics analyses results confirmed the pathogenicity of the two novel mutations. In family 7, we also identified two single-nucleotide polymorphisms (SNPs) that were predicted to affect the splicing of EDAR. Analysis of the patient’s total RNA revealed normal splicing of EDAR. This ascertained that the compound heterozygous WNT10A mutations are the genetic defects that led to the onset of HED. Our data revealed the genetic basis of seven HED patients and expended the mutational spectrum. Interestingly, we confirmed WNT10A as a candidate gene of HED and we propose WNT10A to be tested in EDA-negative HED patients.
- Subjects :
- 0301 basic medicine
Candidate gene
Ectodermal dysplasia
lcsh:QH426-470
Single-nucleotide polymorphism
hypohidrotic ectodermal dysplasia
EDA
EDAR
EDARADD
WNT10A
030105 genetics & heredity
Biology
Compound heterozygosity
Article
03 medical and health sciences
stomatognathic system
Genetics
medicine
Ectodysplasin A receptor
Hypohidrotic ectodermal dysplasia
Genetics (clinical)
integumentary system
medicine.disease
lcsh:Genetics
030104 developmental biology
Ectodysplasin A
Subjects
Details
- Language :
- English
- ISSN :
- 20734425
- Database :
- OpenAIRE
- Journal :
- Genes; Volume 7; Issue 9; Pages: 65
- Accession number :
- edsair.doi.dedup.....c31915729447601100f4bf1b5819df6d
- Full Text :
- https://doi.org/10.3390/genes7090065