Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Gap junction gamma-2 protein

The GJC2 gene encodes a gap junction protein. Mutations cause autosomal dominant hereditary lymphedema type 1c and recessive spastic paraplegia type 44 and hypomyelinating Leukodystrophy 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hypomyelinating Leukodystrophy 2
GJC2
Hereditary lymphedema type 1c
GJC2
Autosomal recessive spastic paraplegia type 44
GJC2

References:

1.

Nezu A et. al. () Pelizaeus-Merzbacher-like disease: female case report.

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2.

Odermatt B et. al. (2003) Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.

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3.

Menichella DM et. al. (2003) Connexins are critical for normal myelination in the CNS.

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4.

Uhlenberg B et. al. (2004) Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

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5.

Wolf NI et. al. (2007) Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

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6.

Salviati L et. al. (2007) A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

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7.

Orthmann-Murphy JL et. al. (2007) Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.

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8.

Henneke M et. al. (2008) GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

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9.

Orthmann-Murphy JL et. al. (2009) Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

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10.

Diekmann S et. al. (2010) Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

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11.

Ferrell RE et. al. (2010) GJC2 missense mutations cause human lymphedema.

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12.

Osaka H et. al. (2010) Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

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13.

Combes P et. al. (2012) Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.

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14.

Ostergaard P et. al. (2011) Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

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15.

Biancheri R et. al. (2013) Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

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16.

Gotoh L et. al. (2014) GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

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Update: Sept. 26, 2018