Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2001 Mar;68(3):559-68.
doi: 10.1086/318803. Epub 2001 Jan 25.

Connexin mutations in skin disease and hearing loss

D P Kelsell  1 , W L Di, M J Houseman
Affiliations
Review

Connexin mutations in skin disease and hearing loss

D P Kelsell et al. Am J Hum Genet. 2001 Mar.
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1
Examples of epidermal phenotypes associated with connexin mutations. A and B, R75W mutation in GJB2 in a patient with palmoplantar keratoderma and profound hearing loss (clinical pictures courtesy of G. Richard, S. Bale, and the Ain-Shams Medical Genetics Clinic in Cairo, Egypt). C and D, F137L mutation in GJB4 in a patient with erythrokeratoderma variabilis (clinical pictures courtesy of D. Hohl and B. Mevorah). E and F, R42P mutation in GJB3 in a patient with erythrokeratoderma variabilis (clinical pictures courtesy of C. Kennedy).
Figure 2
Figure 2
Schematic of protein domains of Cx26, Cx31, Cx30, and Cx30.3, with localization of disease-associated mutations. “M1”–“M4” denote transmembrane-spanning domains; “E1” and “E2” denote extracellular domains; “CL” denotes cytoplasmic loop; “NT” denotes cytoplasmic amino terminus; “CT” denotes cytoplasmic carboxy terminus. Green circles denote mutations associated with epidermal disease; yellow circles denote mutations associated with hearing loss; yellow circles with black dots denote mutations associated with profound hearing loss; yellow circles with horizontal lines denote mutations associated with mild hearing loss; white circles denote mutation associated with peripheral neuropathy.
Figure 3
Figure 3
Expression patterns of three connexins—Cx26 (a), Cx30 (b), and Cx31 (c)—in human epidermis of the sole. Immunofluorescence staining with connexin antibodies, performed on frozen sections of the sole, shows the distribution and the characteristic punctate membrane staining of connexins.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Connexin-Deafness Homepage, The, http://www.iro.es/cx26deaf.html
    1. Hereditary Hearing Loss Homepage, http://dnalab-www.uia.ac.be/dnalab/hhh/
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for Vohwinkel syndrome [MIM 124500], DFNA3 [MIM 601544], EKV [MIM 133200], GJB2 [MIM 121011], DFNB1 [MIM 220290], HED [MIM 129500], GJB3 [MIM 603324], GJB6 [MIM 604418], and palmoplantar keratoderma with deafness [MIM 148350])

References

    1. Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ (2000) Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 37:41–43 - PMC - PubMed
    1. Bale SJ, White TW, Munro C, Taylor AEM, Richard G (1999) Functional defects of Cx26 due to mutations in two families with dominant palmoplantar keratoderma and deafness. J Invest Dermatol 112:A550
    1. Cao F, Eckert R, Elfgang C, Nitsche JM, Snyder SA, DF Hu, Willecke K, Nicholson BJ (1998) A quantitative analysis of connexin-specific permeability differences of gap junctions expressed in HeLa transfectants and Xenopus oocytes. J Cell Sci 111:31–43 - PubMed
    1. Choudhry R, Pitts JD, Hodgins MB (1997) Changing patterns of gap junctional intercellular communication and connexin distribution in mouse epidermis and hair follicles during embryonic development. Dev Dyn 210:417–430 - PubMed
    1. Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ (1999) Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene. Pediatrics 103:546–550 - PubMed