Mutation analysis of GJB6 gene in a Chinese family with hidrotic ectodermal dysplasia

( views:325, downloads:0 )
Author:
WANG Zhen(Department of Dermatology,Shenyang Seventh People’s Hospital, Shenyang 110003, China)
CAO Li-hua()
LI Tie-nan(Department of Dermatology,Shenyang Seventh People’s Hospital, Shenyang 110003, China)
XING Xue-sha()
WU Yu-hong()
LUO Yang()
Journal Title:
International Journal of Dermatology and Venereology
Issue:
Volume 38, Issue 05, 2012
DOI:
10.3760/cma.j.issn.1673-4173.2012.05.002
Key Word:
Ectodermal dysplasia; Mutation; Genes; Connexin 30

Abstract: Objective To identify the mutation of GJB6 gene in a Chinese pedigree with hidrotic ectodermal dysplasia,in hope to provide information for genetic diagnosis and counseling.Methods Blood samples were collected from a 23-year-old male proband and his family members including three affected and four unaffected individuals.Genomic DNA was extracted from the samples,and PCR was performed to amplify all the exons of GJB6 gene of the proband followed by Sanger sequencing.Putative mutations were confirmed by duplicate PCR amplification and sequencing of the affected exons in the other family members.Results A missense mutation c.31G>A (p.G11R) in GJB6,which leads to the substitution of highly conserved glycine (G) by arginine (R) at position 11 of the connexin-30 (CX-30) protein,was detected in all the affected family members,but not in any of the unaffected individuals.Conclusion Hidrotic ectodermal dysplasia in this family is likely to be caused by the missense mutation c.31G>A(p.G11R) in GJB6 gene.

  • [1]Ando Y,Tanaka T,Horiguchi Y,et al.Hidrotic ectodermal dysplasia:a clinical and ultrastructural observation.Dermatologica,1988,176(4):205-211.
  • [2]Fraser FC,Der Kaloustian VM.A man,a syndrome,a gene:Clouston's hidrotic ectodermal dysplasia (HED).Am J Med Genet,2001,100(2):164-168.
  • [3]Tan E,Tay YK.What syndrome is this? Hidrotic ectodermal dysplasia (Clouston syndrome).Pediatr Dermatol,2000,17 (1):65-67.
  • [4]Sepulveda W,Sandoval R,Carstens E,et al.Hypohidrotic ectodermal dysplasia:prenatal diagnosis by three-dimensional ultrasonography.J Ultrasound Med,2003,22 (7):731-735.
  • [5]van Steensel MA,Steijlen PM,Bladergroen RS,et al.A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.J Invest Dermatol,2004,123(2):291-293.
  • [6]Richard G.Connexins:a connection with the skin.Exp Dermatol,2000,9(2):77-96.
  • [7]Lamartine J,Munhoz Essenfelder G,Kibar Z,et al.Mutations in GJB6 cause hidrotic ectodermal dysplasia.Nat Genet,2000,26 (2):142-144.
  • [8]Smith FJ,Morley SM,McLean WH.A novel connexin 30 mutation in Clouston syndrome.J Invest Dermatol,2002,118(3):530-532.
  • [9]Baris HN,Zlotogorski A,Peretz-Amit G,et al.A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis.Br J Dermatol,2008,159(6):1373-1376.
  • [10]van Steensel MA.Gap junction diseases of the skin.Am J Med Genet C Semin Med Genet,2004,131C(1):12-19.
  • [11]Templeton SF,Wiegand SE.Pachyonychia congenita-associated alopecia.A microscopic analysis using transverse section technique.Am J Dermatopathol,1997,19(2):180-184.
  • [12]Hassed SJ,Kincannon JM,Arnold GL.Clouston syndrome:an ectodermal dysplasia without significant dental findings.Am J Med Genet,1996,61 (3):274-276.
WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:yiyao@wanfangdata.com.cn