OMIM: 608804Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | GJC2 |
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| Dna Change: | c.-167A>G |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Others |
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| Location: | promoter |
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| Transcript: | NM_020435.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 5 patients/4 families | NA | Kammoun Jellouli N et al., 2013Kammoun Jellouli N, Salem IH, Ellouz E, Louhichi N, tlili A, Kammoun F, Triki C, Fakhfakh F, , . Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.. Gene. 2013; 513(2):233-8 |
References
Kammoun Jellouli N, Salem IH, Ellouz E, Louhichi N, tlili A, Kammoun F, Triki C, Fakhfakh F, , Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.Gene. 2013; 513(2):233-8