Advertisement

Research Article Free access | 10.1172/JCI118467

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

C A Stratakis, J A Carney, J P Lin, D A Papanicolaou, M Karl, D L Kastner, E Pras, and G P Chrousos

Section on Pediatric Endocrinology, National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA. stratakc@cc1.nichd.nih.gov

Find articles by Stratakis, C. in: PubMed | Google Scholar

Section on Pediatric Endocrinology, National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA. stratakc@cc1.nichd.nih.gov

Find articles by Carney, J. in: PubMed | Google Scholar

Section on Pediatric Endocrinology, National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA. stratakc@cc1.nichd.nih.gov

Find articles by Lin, J. in: PubMed | Google Scholar

Section on Pediatric Endocrinology, National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA. stratakc@cc1.nichd.nih.gov

Find articles by Papanicolaou, D. in: PubMed | Google Scholar

Section on Pediatric Endocrinology, National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA. stratakc@cc1.nichd.nih.gov

Find articles by Karl, M. in: PubMed | Google Scholar

Section on Pediatric Endocrinology, National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA. stratakc@cc1.nichd.nih.gov

Find articles by Kastner, D. in: PubMed | Google Scholar

Section on Pediatric Endocrinology, National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA. stratakc@cc1.nichd.nih.gov

Find articles by Pras, E. in: PubMed | Google Scholar

Section on Pediatric Endocrinology, National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA. stratakc@cc1.nichd.nih.gov

Find articles by Chrousos, G. in: PubMed | Google Scholar

Published February 1, 1996 - More info

Published in Volume 97, Issue 3 on February 1, 1996
J Clin Invest. 1996;97(3):699–705. https://doi.org/10.1172/JCI118467.
© 1996 The American Society for Clinical Investigation
Published February 1, 1996 - Version history
View PDF
Abstract

Carney complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, and lentiginosis. The genetic defect(s) responsible for the complex remain(s) unknown. We studied 101 subjects, including 51 affected members, from 11 North American kindreds with Carney complex. Blood samples were collected from patients and their family members. Hospital records, photographs, and tissue specimens of deceased individuals were reviewed. DNA was extracted from blood samples, patient-derived cell lines, and/or paraffin-embedded tissues. Linkage analysis was performed with highly polymorphic microsatellite markers, distributed over areas of the human genome harboring the most likely candidate genes. The most prevalent clinical manifestation in patients with Carney complex was spotty skin pigmentation, similar to that observed in Peutz-Jeghers and other lentiginosis syndromes. Skin and cardiac myxomas, Cushing syndrome, and acromegaly were present in 62, 30, 31 and 8 percent of the patients, respectively. Linkage was obtained for three markers on the short arm of chromosome 2 (2p16), with a maximum two-point lod score of 5.97 at theta = 0.03 for the marker CA-2 (odds in favor of linkage 10(6):1. The flanking markers CA7 and D2S378 defined a region of approximately 6.4 cM that is likely to contain the gene(s) associated with Carney complex. Candidate genes in the proximity, including the propiomelanocortin and the DNA-mismatch repair hMSH2 genes, were excluded. We conclude that the genetic defect(s) responsible for Carney complex map(s) to the short arm of chromosome 2 (2p16). This region has exhibited cytogenetic aberrations in atrial myxomas associated with the complex, and has been characterized by microsatellite instability in human neoplasias.

Version history
  • Version 1 (February 1, 1996): No description
Advertisement
Advertisement