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A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
- Source :
- Hereditas, Vol 157, Iss 1, Pp 1-4 (2020), Hereditas
- Publication Year :
- 2020
- Publisher :
- BMC, 2020.
-
Abstract
- Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 protein, have been found to cause HED in different populations. Here, we reported a big Chinese family in which 24 patients over five generations were suffered with HED. Sequence analysis identified all 24 patients carry a recurrent missense mutation c.263C > T (p.A88V) in GJB6. Our results reveal gene testing of GJB6 is important for diagnosis, prenatal diagnosis and future gene treatment of HED.
- Subjects :
- Adult
Male
0106 biological sciences
China
Ectodermal dysplasia
medicine.medical_specialty
lcsh:QH426-470
Prenatal diagnosis
Gene mutation
01 natural sciences
03 medical and health sciences
GJB6
Ectodermal Dysplasia
Connexin 30
Genetics
medicine
Humans
Missense mutation
Genetic Predisposition to Disease
Recurrent mutation
Chinese family
Gene
Alleles
Genetic Association Studies
030304 developmental biology
0303 health sciences
biology
Brief Report
Sequence analysis
Hidrotic ectodermal dysplasia
Sequence Analysis, DNA
General Medicine
medicine.disease
Dermatology
Pedigree
lcsh:Genetics
Phenotype
Mutation
Gene mutations
biology.protein
Female
010606 plant biology & botany
Subjects
Details
- Language :
- English
- ISSN :
- 16015223
- Volume :
- 157
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Hereditas
- Accession number :
- edsair.doi.dedup.....838b83adbda8fa986f1bdcd451e6b029