OMIM: 610489Inheritance: Autosomal dominant
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | PRKAR1A |
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| Dna Change: | c.709-7_709-2delTTTTTA |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Splice site |
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| Location: | intron 6 |
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| Transcript: | NM_002734.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | NA | 12 patients/12 unrelated families | NA | Groussin L et al., 2006Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J, . A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.. J. Clin. Endocrinol. Metab.. 2006; 91(5):1943-9 |
References
Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J, A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.J. Clin. Endocrinol. Metab.. 2006; 91(5):1943-9