Founder effect at PGL1 in hereditary head and neck paraganglioma families from The Netherlands

American Journal of Human Genetics

Volumn 63, Issue 2, 1998, Pages 468-473

  Van Schothorst, Evert M ^a   Jansen, Jeroen C ^a   Grooters, Edward ^a   Prins, Duncan E M ^a   Wiersinga, Joris J ^b   Van Der Mey, Andel G L ^a   Van Ommen, G J B ^a   Devilee, Peter ^a   Cornelisse, Cees J ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENEALOGY; GENETIC DISORDER; HAPLOTYPE; HEAD TUMOR; HUMAN; MAJOR CLINICAL STUDY; MALE; NECK TUMOR; NETHERLANDS; PARAGANGLIOMA; PRIORITY JOURNAL;

EID: 0032231351     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301951     Document Type: Article

References (31)

1. Baysal BE, Farr JE, Rubinstein WS, Galus RA, Johnson KA, Aston CE, Myers EN, et al (1997a) Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23. Am J Hum Genet 60:121-132
2. Baysal BE, Van Schothorst EM, Farr JE, James MR, Devilee P, Richard CW III (1997b) A high resolution STS, EST, and gene-based physical map of the hereditary paraganglioma region on chromosome 11q23. Genomics 44:214-221
3. Bogdasarian R, Lotz P (1979) Multiple simultaneous paragangliomas of the head and neck in association with multiple retroperitoneal pheochromocytomas. Otolaryngol Head Neck Surg 87:648-652
4. Buyle S, Reyniers E, Vits L, De Boulle K, Handig I, Wuyts FL, Deelen W, et al (1993) Founder effect in a Belgian-Dutch fragile X population. Hum Genet 92:269-272
5. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
6. Freimer NB, Reus VI, Escamilla MA, McInnes LA, Spesny M, Leon P, Service SK, et al (1996) Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat Genet 12: 436-441
7. Grufferman S, Gillman M, Pasternak L, Peterson C, Young W (1980) Familial carotid body tumors: case report and epdemiologic review. Cancer 46:2116-2122
8. Gruis NA, Sandkuijl LA, Van der Velden PA, Bergman W, Frants RR (1995) CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. Melanoma Res 5:169-177
9. Hart W, Maartense E (1992) Hypothyroidism and chemodectoma in father and daughter: a new syndrome or a coincidence? Clin Endocrinol (Oxf) 36:295-296
10. Heutink P, Van der Mey A, Sandkuijl L, Van Gils A, Bardoel A, Breedveld G, Van Vliet M, et al (1992) A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet 1:7-10
11. Heutink P, Van Schothorst E, Van der Mey A, Bardoel A, Breedveld G, Pertijs J, Sandkuijl L, et al (1994) Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families. Eur J Hum Genet 2:148-158
12. Houwen R, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl L, Freimer N (1994) Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 8:380-386
13. Lack EE, Cubilla AL, Woodruff JM, Farr HW (1977) Paragangliomas of the head and neck region: a clinical study in 69 patients. Cancer 39:397-409
14. Litt M, Kramer P, Kort E, Fain P, Cox S, Root D, White R, et al (1995) The CEPH consortium linkage map of human chromosome 11. Genomics 27:101-112
15. Mariman E, Van Beersum S, Cremers C, Struycken P, Ropers H (1995) Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q131: evidence for genetic heterogeneity. Hum Genet 95: 56-62
16. McCaffrey T, Meyer F, Michels V, Piepgras D, Marion M (1994) Familial paragangliomas of the head and neck. Arch Otolaryngol Head Neck Surg 120:1211-1216
17. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
18. Milunsky J, Destefano AL, Huang XL, Baldwin CT, Michels VV, Jako G, Milunsky A (1997) Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet 72:66-70
19. Oosterwijk JC, Jansen JC, Van Schothorst EM, Oosterhof AW, Devilee P, Bakker E, Zoeteweij MW, et al (1996) First experiences with genetic counseling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas). J Med Genet 33:379-383
20. Paldi A, Gyapay G, Jami J (1995) Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies. Curr Biol 5:1030-1035
21. Parry D, Li F, Strong L, Carney J, Schottenfeld D, Reimer R, Grufferman S (1982) Carotid body tumors in humans: genetics and epidemiology. J Natl Cancer Inst 68:573-578
22. Peelen T, van Vliet M, Petrij-Bosch A, Mieremet R, Szabo C, van den Ouweland AMW, Hogervorst F, et al (1997) A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet 60:1041-1049
23. Peltonen L, Uusitalo A (1997) Rare disease genes: lessons and challenges. Genome Res 7:765-767
24. Robinson W, Lalande M (1995) Sex-specific meiotic recombination in the Prader-Willi/Angelman syndrome imprinted region. Hum Mol Genet 4:801-806
25. Sato T, Saito H, Yoshinga K, Shibota Y, Sasano N (1974) Concurrence of carotid body tumor and pheochromocytoma. Cancer 34:1787-1795
26. Taschner PE, de Vos N, Post JG, Meijers-Heijboer EJ, Hofman I, Loonen MC, Pinckers AJ, et al (1995) Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis). Am J Med Genet 57:333-337
27. Van Baars F, Cremers C, Van den Broek P, Geerts S, Veldman J (1982) Genetic aspects of nonchromaffin paraganglioma. Hum Genet 60:305-309
28. Van der Mey A, Maaswinkel-Mooy P, Cornelisse C, Schmidt P, Van de Kamp J (1989) Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet 2: 1291-1294
29. Van Gils A, Van der Mey A, Hoogma R, Sandkuijl L, Maaswinkel-Mooy P, Falke T, Pauwels E (1992) MRI screening of kindred at risk of developing paragangliomas: support for genomic imprinting in hereditary glomus tumours. Br J Cancer 65:903-907
30. Van Schothorst EM, Jansen JC, Bardoel A, Van der Mey AGL, James MJ, Sobol H, Weissenbach J, et al (1996) Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2 cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes. Eur J Hum Genet 4:267-273
31. Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER (1997) Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. Hum Mol Genet 6:1051-1056