Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes
The "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by inactivating mutations of the regulatory subunit type 1A of the cAMP-dependent protein kinase (PRKAR1A) gene and as yet unknown defect(s) in other gene(s). Deli...
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| Published in: | The journal of clinical endocrinology and metabolism Vol. 94; no. 6; p. 2085 |
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| Main Authors: | , , , , , , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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United States
01.06.2009
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| Subjects: | |
| ISSN: | 1945-7197, 1945-7197 |
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| Abstract | The "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by inactivating mutations of the regulatory subunit type 1A of the cAMP-dependent protein kinase (PRKAR1A) gene and as yet unknown defect(s) in other gene(s). Delineation of a genotype-phenotype correlation for CNC patients is essential for understanding PRKAR1A function and providing counseling and preventive care.
A transatlantic consortium studied the molecular genotype and clinical phenotype of 353 patients (221 females and 132 males, age 34 +/- 19 yr) who carried a germline PRKAR1A mutation or were diagnosed with CNC and/or primary pigmented nodular adrenocortical disease.
A total of 258 patients (73%) carried 80 different PRKAR1A mutations; 114 (62%) of the index cases had a PRKAR1A mutation. Most PRKAR1A mutations (82%) led to lack of detectable mutant protein (nonexpressed mutations) because of nonsense mRNA mediated decay. Patients with a PRKAR1A mutation were more likely to have pigmented skin lesions, myxomas, and thyroid and gonadal tumors; they also presented earlier with these tumors. Primary pigmented nodular adrenocortical disease occurred earlier, was more frequent in females, and was the only manifestation of CNC with a gender predilection. Mutations located in exons were more often associated with acromegaly, myxomas, lentigines, and schwannomas, whereas the frequent c.491-492delTG mutation was commonly associated with lentigines, cardiac myxomas, and thyroid tumors. Overall, nonexpressed PRKAR1A mutations were associated with less severe disease.
CNC is genetically and clinically heterogeneous. Certain tumors are more frequent, with specific mutations providing some genotype-phenotype correlation for PRKAR1A mutations. |
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| AbstractList | The "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by inactivating mutations of the regulatory subunit type 1A of the cAMP-dependent protein kinase (PRKAR1A) gene and as yet unknown defect(s) in other gene(s). Delineation of a genotype-phenotype correlation for CNC patients is essential for understanding PRKAR1A function and providing counseling and preventive care.
A transatlantic consortium studied the molecular genotype and clinical phenotype of 353 patients (221 females and 132 males, age 34 +/- 19 yr) who carried a germline PRKAR1A mutation or were diagnosed with CNC and/or primary pigmented nodular adrenocortical disease.
A total of 258 patients (73%) carried 80 different PRKAR1A mutations; 114 (62%) of the index cases had a PRKAR1A mutation. Most PRKAR1A mutations (82%) led to lack of detectable mutant protein (nonexpressed mutations) because of nonsense mRNA mediated decay. Patients with a PRKAR1A mutation were more likely to have pigmented skin lesions, myxomas, and thyroid and gonadal tumors; they also presented earlier with these tumors. Primary pigmented nodular adrenocortical disease occurred earlier, was more frequent in females, and was the only manifestation of CNC with a gender predilection. Mutations located in exons were more often associated with acromegaly, myxomas, lentigines, and schwannomas, whereas the frequent c.491-492delTG mutation was commonly associated with lentigines, cardiac myxomas, and thyroid tumors. Overall, nonexpressed PRKAR1A mutations were associated with less severe disease.
CNC is genetically and clinically heterogeneous. Certain tumors are more frequent, with specific mutations providing some genotype-phenotype correlation for PRKAR1A mutations. The "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by inactivating mutations of the regulatory subunit type 1A of the cAMP-dependent protein kinase (PRKAR1A) gene and as yet unknown defect(s) in other gene(s). Delineation of a genotype-phenotype correlation for CNC patients is essential for understanding PRKAR1A function and providing counseling and preventive care.BACKGROUNDThe "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by inactivating mutations of the regulatory subunit type 1A of the cAMP-dependent protein kinase (PRKAR1A) gene and as yet unknown defect(s) in other gene(s). Delineation of a genotype-phenotype correlation for CNC patients is essential for understanding PRKAR1A function and providing counseling and preventive care.A transatlantic consortium studied the molecular genotype and clinical phenotype of 353 patients (221 females and 132 males, age 34 +/- 19 yr) who carried a germline PRKAR1A mutation or were diagnosed with CNC and/or primary pigmented nodular adrenocortical disease.METHODSA transatlantic consortium studied the molecular genotype and clinical phenotype of 353 patients (221 females and 132 males, age 34 +/- 19 yr) who carried a germline PRKAR1A mutation or were diagnosed with CNC and/or primary pigmented nodular adrenocortical disease.A total of 258 patients (73%) carried 80 different PRKAR1A mutations; 114 (62%) of the index cases had a PRKAR1A mutation. Most PRKAR1A mutations (82%) led to lack of detectable mutant protein (nonexpressed mutations) because of nonsense mRNA mediated decay. Patients with a PRKAR1A mutation were more likely to have pigmented skin lesions, myxomas, and thyroid and gonadal tumors; they also presented earlier with these tumors. Primary pigmented nodular adrenocortical disease occurred earlier, was more frequent in females, and was the only manifestation of CNC with a gender predilection. Mutations located in exons were more often associated with acromegaly, myxomas, lentigines, and schwannomas, whereas the frequent c.491-492delTG mutation was commonly associated with lentigines, cardiac myxomas, and thyroid tumors. Overall, nonexpressed PRKAR1A mutations were associated with less severe disease.RESULTSA total of 258 patients (73%) carried 80 different PRKAR1A mutations; 114 (62%) of the index cases had a PRKAR1A mutation. Most PRKAR1A mutations (82%) led to lack of detectable mutant protein (nonexpressed mutations) because of nonsense mRNA mediated decay. Patients with a PRKAR1A mutation were more likely to have pigmented skin lesions, myxomas, and thyroid and gonadal tumors; they also presented earlier with these tumors. Primary pigmented nodular adrenocortical disease occurred earlier, was more frequent in females, and was the only manifestation of CNC with a gender predilection. Mutations located in exons were more often associated with acromegaly, myxomas, lentigines, and schwannomas, whereas the frequent c.491-492delTG mutation was commonly associated with lentigines, cardiac myxomas, and thyroid tumors. Overall, nonexpressed PRKAR1A mutations were associated with less severe disease.CNC is genetically and clinically heterogeneous. Certain tumors are more frequent, with specific mutations providing some genotype-phenotype correlation for PRKAR1A mutations.CONCLUSIONCNC is genetically and clinically heterogeneous. Certain tumors are more frequent, with specific mutations providing some genotype-phenotype correlation for PRKAR1A mutations. |
| Author | Libe, Rosella René-Corail, Fernande Groussin, Lionel Boikos, Sosipatros Bertherat, Jérôme Bourdeau, Isabelle Bertagna, Xavier Bei, Thalia Calender, Alain Stratakis, Constantine A Cazabat, Laure Horvath, Anélia Grabar, Sophie Kirschner, Lawrence S Stergiopoulos, Sotirios Clauser, Eric Carney, J Aidan |
| Author_xml | – sequence: 1 givenname: Jérôme surname: Bertherat fullname: Bertherat, Jérôme organization: Institut National de la Santé et de la Recherche Médicale Unit 567, Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut Cochin, Endocrinology, Metabolism and Cancer Department, Paris 75014, France – sequence: 2 givenname: Anélia surname: Horvath fullname: Horvath, Anélia – sequence: 3 givenname: Lionel surname: Groussin fullname: Groussin, Lionel – sequence: 4 givenname: Sophie surname: Grabar fullname: Grabar, Sophie – sequence: 5 givenname: Sosipatros surname: Boikos fullname: Boikos, Sosipatros – sequence: 6 givenname: Laure surname: Cazabat fullname: Cazabat, Laure – sequence: 7 givenname: Rosella surname: Libe fullname: Libe, Rosella – sequence: 8 givenname: Fernande surname: René-Corail fullname: René-Corail, Fernande – sequence: 9 givenname: Sotirios surname: Stergiopoulos fullname: Stergiopoulos, Sotirios – sequence: 10 givenname: Isabelle surname: Bourdeau fullname: Bourdeau, Isabelle – sequence: 11 givenname: Thalia surname: Bei fullname: Bei, Thalia – sequence: 12 givenname: Eric surname: Clauser fullname: Clauser, Eric – sequence: 13 givenname: Alain surname: Calender fullname: Calender, Alain – sequence: 14 givenname: Lawrence S surname: Kirschner fullname: Kirschner, Lawrence S – sequence: 15 givenname: Xavier surname: Bertagna fullname: Bertagna, Xavier – sequence: 16 givenname: J Aidan surname: Carney fullname: Carney, J Aidan – sequence: 17 givenname: Constantine A surname: Stratakis fullname: Stratakis, Constantine A |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/19293268$$D View this record in MEDLINE/PubMed |
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| PublicationTitle | The journal of clinical endocrinology and metabolism |
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| Snippet | The "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by inactivating mutations of the... |
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| SubjectTerms | Adolescent Adrenal Cortex Diseases - complications Adrenal Cortex Diseases - genetics Adult Aged Aged, 80 and over Child Child, Preschool Cyclic AMP-Dependent Protein Kinase RIalpha Subunit - genetics DNA Mutational Analysis Female Genotype Humans Infant Male Middle Aged Mutation - physiology Myxoma - complications Myxoma - genetics Phenotype Young Adult |
| Title | Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes |
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