Table 1.

Genetic disorders caused by human connexin mutations

Gene	Chromosome	Protein	Disorder(s)	OMIM
GJA1	6q22.31	Cx43	Craniometaphyseal dysplasia, autosomal recessive Erythrokeratodermia variabilis et progressiva Oculodentodigital dysplasia Oculodentodigital dysplasia, autosomal recessive Palmoplantar keratoderma with congenital alopecia Syndactyly, type III	218400 133200 164200 257850 104100 186100
GJA3	13q12.11	Cx46	Cataract	601885
GJA4	1p34.3	Cx37
GJA5	1q21.2	Cx40	Atrial fibrillation, familial, 11 Atrial standstill, digenic (GJA5/SCN5A)	614049 108770
GJA8	1q21.2	Cx50	Cataract	116200
GJA9	1p34.3	Cx59
GJA10	6q15	Cx62
GJB1	Xq13.1	Cx32	Charcot-Marie-Tooth neuropathy, X-linked 1	302800
GJB2	13q12.11	Cx26	Bart-Pumphrey syndrome Deafness, autosomal dominant 3A Deafness, autosomal recessive 1A Hystrix-like ichthyosis with deafness Keratitis-ichthyosis-deafness syndrome Keratoderma, palmoplantar, with deafness Vohwinkel syndrome Porokeratotic eccrine ostial and dermal duct nevus	149200 601544 220290 602540 148210 148350 124500
GJB3	1p34.3	Cx31	Deafness, autosomal dominant 2B Deafness, digenic, (GJB2/GJB3) Erythrokeratodermia variabilis et progressiva	612644 220290 133200
GJB4	1p34.3	Cx30.3	Erythrokeratodermia variabilis et progressiva	133200
GJB5	1p34.3	Cx31.1
GJB6	13q12.11	Cx30	Deafness, autosomal dominant 3B Deafness, autosomal recessive 1B Deafness, digenic (GJB2/GJB6) Ectodermal dysplasia 2, Clouston type	612643 612645 220290 129500
GJB7	6q14.3–q15	Cx25
GJC1	17q21.31	Cx45
GJC2	1q42.13	Cx47	Leukodystrophy, hypomyelinating, 2 Spastic paraplegia 44, autosomal recessive Lymphedema, hereditary, IC	608804 613206 613480
GJC3	7q22.1	Cx30.2
GJD2	15q14	Cx36
GJD3	17q21.2	Cx31.9
GJD4	10p11.21	Cx40.1
GJE1	6q24.1	Cx23