Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex)

American Journal of Medical Genetics

Volumn 86, Issue 1, 1999, Pages 62-65

  Goldstein, Marsha M ^a   Casey, Mairead ^b   Carney, J Aidan ^c   Basson, Craig T ^b,d  

^a RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^b NEW YORK PRESBYTERIAN HOSPITAL   (United States)

^c MAYO CLINIC   (United States)

^d WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

Chromosome 17; Genetic testing; Heart; Myxoma; Skin

Indexed keywords

DNA;

ADULT; ARTICLE; CARNEY COMPLEX; CASE REPORT; CHROMOSOME 17Q; ECHOCARDIOGRAPHY; GENE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL;

ADULT; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENES, DOMINANT; GENETIC SCREENING; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MYXOMA; NUCLEAR FAMILY; PEDIGREE; SYNDROME;

NOTOLABRUS CELIDOTUS;

EID: 0032769145     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990903)86:1<62::AID-AJMG12>3.0.CO;2-1     Document Type: Article

References (24)

1. Atherton DJ, Pitcher DW, Wells RS, MacDonald DM. 1980. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata, and atrial myxoma: the NAME syndrome. Br J Dermatol 103:421-429.
2. Carney, JA, Gordon, H, Carpenter, PC, Shenoy, BV, Go, VL. 1985. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine 64:270-283.
3. Casey M, Mah C, Merliss AD, Kirechner LS, Taymans SE, Denio AE, Korf B, Irvine AD, Hughes A, Carney JA, Stratakis CA, Basson CT. 1998. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation 98:2560-2566.
4. Farah, MG. 1994. Familial cardiac myxoma. A study of relatives of patients with myxoma. Chest 105:65-68.
5. Fisher MS, Edmonds PR. 1988. Lipomatous hypertrophy of the interatrial septum. Diagnosis by magnetic resonance imaging. J Comput Tomogr 12:267-269.
6. Frierson HF, Cooper PH. 1983. Myxoid variant of dermatofibrosarcoma protuberans. Am J Surg Pathol 7:445-450.
7. Hutter AM, Page DL. 1971. Atrial arrhythmias and lipomatous hypertrophy of the cardiac interatrial septum. Am Heart J 82:16-21.
8. Inoue T, Mohri N, Nagahara T, Takanashi R. 1988. A case report of "lipomatous hypertrophy of the cardiac interatrial septum," with a proposal for a new term "lipomatous hamartoma of the cardiac atrial septum." Acta Pathol Jpn 38:1583-1589.
9. Isner JM, Swan CS, Mikus JP, Carter BL. 1982. Lipomatous hypertrophy of the interatrial septum: in vivo diagnosis. Circulation 66:470-473.
10. Kindman LA, Wright A, Tye T, Seale W, Appleton C. 1988. Lipomatous hypertrophy of the interatrial septum: characterization by transesophageal and transthoracic echocardiography, magnetic resonance imaging, and computed tomography. J Am Soc Echocardiogr 1:450-454.
11. Koopman RJ, Happle R. 1991. Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin, and endocrine overactivity). Hum Genet 86:300-304.
12. Matsuki K, Kakitsubata Y, Watanabe K, Tsukino H, Nakajima K. 1997. Mesenteric plexiform neurofibroma associated with Recklinghausen disease. Pediatr Radiol 27:255-256.
13. McCarthy, PM, Piehler, JM, Schaff, HV, Pluth, JR, Orszulak, TA, Vidaillet, HJ, Carney, JA. 1986. The significance of multiple, recurrent, and "complex" cardiac myxomas. J Thorac Cardiovasc Surg 91:389-396.
14. Meaney JF, Kazerooni EA, Jamadar DA, Korobkin M. 1997. CT appearance of lipomatous hypertrophy of the interatrial septum. Am J Roentgenol 168:1081-1084.
15. Ockner DM, Sayadi H, Swanson PE, Ritter JH, Wick MR. 1997. Genital angiomyofibroblastoma. Comparison with aggressive angiomyxoma and other myxoid neoplasms of skin and soft tissue. Am J Clin Pathol 107:36-44.
16. Online Mendelian Inheritance in Man, OMIM (TM). 1997. Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). World Wide Web URL: http://www.ncbi.nlm.nih.gov/ omim/
17. Rees JR, Ross FGM, Keen G. 1973. Lentiginosis and left atrial myxoma. Brit Heart J 35:874-876.
18. Resnick JM, Fanning CV, Caraway NP, Varma DG, Johnson M. 1997. Percutaneous needle biopsy diagnosis of benign neurogenic neoplasms. Diagn Cytopathol 16:17-25.
19. Reyes CV, Jablokow VR. 1979. Lipomatous hypertrophy of the cardiac interatrial septum: a report of 38 cases and review of the literature. Am J Clin Pathol 72:785-788.
20. Reynen, K. 1995. Cardiac myxomas. N Engl J Med. 333:1610-1617.
21. Rhodes, AR, Silverman, RA, Harrist, TJ, Perez-Atayde, AR. 1984. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: the 'LAMB' syndrome. J Am Acad Derm 10:72-82.
22. Smola MG, Ratschek M, Hoflehner H. 1992. Seltener Tumor des N. ischiadicus-myxoides Neurofibrom. Ein Fallbericht. [A rare tumor of the sciatic nerve - myxoid neurofibroma. A case report.) Handchir Mikrochir Plast Chir 24:84-87.
23. Vidaillet HJ, Seward JB, Fyke E, Tajik AJ. 1984. NAME syndrome (nevi, atrial myxoma, myxoid neurofibroma, ephelides): a new and unrecognized subset of patients with cardiac myxoma. Minn Med 67:695-696.
24. Wilsher ML, Roche AH, Neutze JM, Synek BJ, Holdaway IM, Nicholson GI. 1986. A familial syndrome of cardiac myxomas, myxoid neurofibromata, cutaneous pigmented lesions, and endocrine abnormalities. Aust N Z J Med 16:393-396.