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Case Reports
. 2019 Dec;58(12):1462-1465.
doi: 10.1111/ijd.14341. Epub 2019 Jan 8.

GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family

Xiaofeng Shi  1 , Dongya Li  1 , Min Chen  1 , Yichen Liu  1 , Qi Yan  1 , Xianqiu Yu  1 , Yan Zhu  1 , Yumei Li  1
Affiliations
Case Reports

GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family

Xiaofeng Shi et al. Int J Dermatol. 2019 Dec.
No abstract available

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Figures

Figure 1
Figure 1
Pedigree chart. Normal individuals are shown as clear circles (females) or squares (males), and affected individuals are shown as solid symbols. The arrow indicates the proband. I, II, III, IV: generation numbers
Figure 2
Figure 2
Clinical symptoms of the affected individuals. a, b, and c from IV 1 (proband). (a) Alopecia, complete absence of body, eyebrows, and eyelashes. (b) Fingernails were short and thickened, discolored, and demonstrated distal onycholysis; (c) Short, thickened, and brittle toenails; d and e from III 1. (d) Hyperkeratosis of the palms with a cobblestone surface; (e) Short, thickened, and brittle toenails
Figure 3
Figure 3
Molecular genetic analysis of GJB6 and GJB2 from proband. (a) Heterozygous missense mutation c.263C>T of GJB6 that predicts amino acid change A88V. (b) Heterozygous missense mutation 79G>A of GJB2 predicting the amino acid change V27I
Figure 4
Figure 4
The location of four gene mutations in CX30. CL, Cytoplasmic loop; E1 and E2, extracellular domains 1 and 2; M1–M4, Transmembrane domains 1–4. The red ☆ indicates the present patient
See this image and copyright information in PMC

References

    1. Clouston HR. A hereditary ectodermal dystrophy. Can Med Assoc J 1929; 21: 18–31. - PMC - PubMed
    1. Zhang XJ, Chen JJ, Yang S, et al A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. J Dermatol Sci 2003; 32: 11–17. - PubMed
    1. Lamartine J, Munhoz Essenfelder G, Kibar Z, et al Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 2000; 26: 142–144. - PubMed
    1. Smith FJ, Morley SM, McLean WH. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol 2002; 118: 530–532. - PubMed
    1. 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: 1373–1376. - PubMed

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