Connexin Mutations in Skin Disease and Hearing Loss

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Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue 3, Pages 559-568 (March 2001) DOI: 10.1086/318803 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

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). The American Journal of Human Genetics 2001 68, 559-568DOI: (10.1086/318803) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

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. The American Journal of Human Genetics 2001 68, 559-568DOI: (10.1086/318803) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

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. The American Journal of Human Genetics 2001 68, 559-568DOI: (10.1086/318803) Copyright © 2001 The American Society of Human Genetics Terms and Conditions