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A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia
Xue-Jun Zhang1, Jian-Jun Chen, Sen Yang
1Institute of Dermatology, Anhui Medical University, 69 Meishan Road, Hefei, Anhui 230032, P.R. China. ayzxj@mail.hf.ah.cn
Insights
A G11R missense mutation in the connexin 30 (Cx30) gene causes hidrotic ectodermal dysplasia (HED) in Chinese Han individuals. This finding highlights the importance of screening for Cx30 gene mutations in HED patients.
Area of Science:
- Genetics
- Dermatology
- Molecular Biology
Background:
- Hidrotic ectodermal dysplasia (HED), also known as Clouston syndrome, is a rare autosomal dominant disorder.
- HED is characterized by nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
- Mutations in the connexin 30 (Cx30) gene have been linked to HED.
Observation:
- A large Chinese HED family (81 individuals, 28 patients) was studied.
- The coding region of the Cx30 gene was analyzed using polymerase chain reaction and direct sequencing.
- Messenger RNA (mRNA) analysis confirmed findings at the transcription level.
Findings:
- A G11R missense mutation in the Cx30 gene was identified in 18 HED patients.
- This specific mutation was absent in unaffected family members and unrelated controls.
- RT-PCR confirmed the transcription of the mutated Cx30 allele.
Implications:
- The G11R missense mutation in the Cx30 gene is a cause of HED in the Chinese Han population.
- Genetic screening for Cx30 gene mutations is crucial for diagnosing HED.
- Further research into Cx30 gene mutations can improve understanding and treatment of HED.
Background:
hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder affecting the skin and its derivatives. It is characterized by the triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. To date, all mutations have been involving in three codons: G11R, A88V and V37E in the connexin 30 (Cx30) gene have been shown to cause this disorder.
Objective:
in order to analyze the mutations of the Cx30 gene in Chinese Han patients with HED.
Methods:
we collected a large Chinese HED family consisting of a total of 81 individuals including 28 HED patients (14 males and 14 females). The whole coding region of Cx30 was amplified by polymerase chain reaction and products analyzed by direct sequencing, then further confirmed at the mRNA level by RT-PCR.
Results:
we detected a transition, 31(G-->A), leading to a missense mutation (G11R) in genomic DNAs of 18 patients, and the point mutation was not found in 16 normal individuals in this HED family and in 188 unrelated, population-match control individuals. The transcription of mutated allele was confirmed by RT-PCR of Cx30 mRNA.
Conclusion:
our data suggests that a G11R missense mutation in the Cx30 gene can cause HED in Chinese Han population and emphasizes the importance of screening for this as well as other Cx30 gene mutations in the HED.