OMIM: 610489Inheritance: Autosomal dominant
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet   
Gene Tests   
Clinical Synopsis   
Clinical TrialsGene/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