Linkage of Hereditary Haemorrhagic Telangiectasia to Chromosome 9q34 and Evidence for Locus Heterogeneity

Overview

Journal J Med Genet

Specialty Genetics

Date 1994 Dec 1

PMID 7891375

Citations 14

Authors

P Heutink

T Haitjema

G J Breedveld

B Janssen

L A Sandkuijl

C J Bontekoe

C J Westerman

B A Oostra

Affiliations

Soon will be listed here.

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with unknown pathophysiology that is characterised by arteriovenous lesions and recurrent haemorrhage in virtually every organ. Linkage of HHT to markers on chromosome 9q has recently been reported. In this study we report confirmation of this localisation in three unrelated families of Dutch origin. A fourth unrelated HHT family, in which considerably fewer pulmonary arteriovenous malformations (PAVM) were present, yielded evidence for non-linkage to this region. We conclude that HHT is a genetically heterogeneous disorder and our results indicate that the presence of PAVM may be more common in patients with a chromosome 9 linked form of HHT than in patients with the non-linked form.

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References

McCabe W, KELLY Jr A . Management of epistaxis in Osler-Weber-Rendu disease: recurrence of telangiectases within a nasal skin graft. Plast Reconstr Surg. 1972; 50(2):114-8. DOI: 10.1097/00006534-197208000-00002. View

Bird R, HAMMARSTEN J, Marshall R, Robinson R . A family reunion: a study of hereditary hemorrhagic telangiectasia. N Engl J Med. 1957; 257(3):105-9. DOI: 10.1056/NEJM195707182570303. View

Reilly P, Nostrant T . Clinical manifestations of hereditary hemorrhagic telangiectasia. Am J Gastroenterol. 1984; 79(5):363-7. View

Lathrop G, Lalouel J, Julier C, Ott J . Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984; 81(11):3443-6. PMC: 345524. DOI: 10.1073/pnas.81.11.3443. View

Sensi A, Abbasciano V, Balboni A, Levato F, Baricordi O . Hereditary hemorrhagic telangiectasy (HHT) and HLA. Tissue Antigens. 1986; 28(5):275-7. DOI: 10.1111/j.1399-0039.1986.tb00496.x. View

Peery W . Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Med. 1987; 82(5):989-97. DOI: 10.1016/0002-9343(87)90162-8. View

Miller S, Dykes D, Polesky H . A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16(3):1215. PMC: 334765. DOI: 10.1093/nar/16.3.1215. View

Weber J, May P . Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989; 44(3):388-96. PMC: 1715443. View

Plauchu H, de Chadarevian J, Bideau A, Robert J . Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet. 1989; 32(3):291-7. DOI: 10.1002/ajmg.1320320302. View

10.

Iannuzzi M, Hidaka N, Boehnke M, Bruck M, Hanna W, Collins F . Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). Am J Hum Genet. 1991; 48(4):757-63. PMC: 1682950. View

11.

Kwiatkowski D, Henske E, Weimer K, Ozelius L, Gusella J, Haines J . Construction of a GT polymorphism map of human 9q. Genomics. 1992; 12(2):229-40. DOI: 10.1016/0888-7543(92)90370-8. View

12.

Porteous M, Burn J, Proctor S . Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet. 1992; 29(8):527-30. PMC: 1016055. DOI: 10.1136/jmg.29.8.527. View

13.

Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P . A second-generation linkage map of the human genome. Nature. 1992; 359(6398):794-801. DOI: 10.1038/359794a0. View

14.

Huebner K, Druck T, LaForgia S, Lasota J, Croce C, Lanfrancone L . Chromosomal localization of four human zinc finger cDNAs. Hum Genet. 1993; 91(3):217-22. DOI: 10.1007/BF00218259. View

15.

Henske E, Ozelius L, Gusella J, Haines J, Kwiatkowski D . A high-resolution linkage map of human 9q34.1. Genomics. 1993; 17(3):587-91. DOI: 10.1006/geno.1993.1376. View

16.

McDonald M, Papenberg K, Ghosh S, Glatfelter A, Biesecker B, Helmbold E . A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet. 1994; 6(2):197-204. DOI: 10.1038/ng0294-197. View

17.

Shovlin C, Hughes J, Tuddenham E, Temperley I, Perembelon Y, Scott J . A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet. 1994; 6(2):205-9. DOI: 10.1038/ng0294-205. View

18.

Ahr D, Rickles F, HOYER L, OLeary D, CONRAD M . von Willebrand's disease and hemorrhagic telangiectasia: association of two complex disorders of hemostasis resulting in life-threatening hemorrhage. Am J Med. 1977; 62(3):452-8. DOI: 10.1016/0002-9343(77)90846-4. View