Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23

Clinical Genetics

Volumn 81, Issue 2, 2012, Pages 110-116

  Dahdaleh, F S ^a   Carr, J C ^a   Calva, D ^a   Howe, J R ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

Chromosome 10q22 23; Copy number variation; Cowden syndrome; Juvenile polyposis; Microdeletions; MLPA

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; SMAD4 PROTEIN;

BACTERIAL ARTIFICIAL CHROMOSOME; CHROMATIN; CHROMOSOME 10Q; CHROMOSOME 9; CHROMOSOME ANALYSIS; COPY NUMBER VARIATION; CYTOGENETICS; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE PREDISPOSITION; DISEASE SEVERITY; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROINTESTINAL POLYPOSIS; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INFANCY; JUVENILE POLYP; KARYOTYPE 46,XY; MACROCEPHALY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; CYTOGENETIC ANALYSIS; HUMANS; INTESTINAL POLYPOSIS; NEOPLASTIC SYNDROMES, HEREDITARY; PTEN PHOSPHOHYDROLASE;

EID: 84855951938     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01763.x     Document Type: Review

References (54)

1. Sebat J, Lakshmi B, Troge J et al. Large-scale copy number polymorphism in the human genome. Science 2004: 305: 525-528.
2. Iafrate AJ, Feuk L, Rivera MN et al. Detection of large-scale variation in the human genome. Nat Genet 2004: 36: 949-951.
3. Redon R, Ishikawa S, Fitch KR et al. Global variation in copy number in the human genome. Nature 2006: 444: 444-454.
4. Lupski JR, Wise CA, Kuwano A et al. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992: 1: 29-33.
5. Schmickel RD. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 1986: 109: 231-241.
6. Ledbetter DH, Riccardi VM, Airhart SD et al. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 1981: 304: 325-329.
7. Flint J, Hill AV, Bowden DK et al. High frequencies of alpha-thalassaemia are the result of natural selection by malaria. Nature 1986: 321: 744-750.
8. Francke U, Ochs HD, de Martinville B et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 1985: 37: 250-267.
9. Hurles ME, Dermitzakis ET, Tyler-Smith C. The functional impact of structural variation in humans. Trends Genet 2008: 24: 238-245.
10. Polymeropoulos MH, Higgins JJ, Golbe LI et al. Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science 1996: 274: 1197-1199.
11. Rovelet-Lecrux A, Hannequin D, Raux G et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006: 38: 24-26.
12. Helbig I, Mefford HC, Sharp AJ et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009: 41: 160-162.
13. Erez A, Patel AJ, Wang X et al. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics 2009: 10: 363-369.
14. Chow E, Macrae F. A review of juvenile polyposis syndrome. J Gastroenterol Hepatol 2005: 20: 1634-1640.
15. Larsen Haidle JL, Howe JR. Juvenile Polyposis Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle (WA): University of Washington, 19932003 May 13: [updated 9 September 2008].
16. Jass JR, Williams CB, Bussey HJ et al. Juvenile polyposis-a precancerous condition. Histopathology 1988: 13: 619-630.
17. Howe JR, Roth S, Ringold JC et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998: 280: 1086-1088.
18. Howe JR, Ringold JC, Summers RW et al. A gene for familial juvenile polyposis maps to chromosome 18q21.1. Am J Hum Genet 1998: 62: 1129-1136.
19. Howe JR, Bair JL, Sayed MG et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 2001: 28: 184-187.
20. Nelen MR, Padberg GW, Peeters EA et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996: 13: 114-116.
21. Liaw D, Marsh DJ, Li J et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997: 16: 64-67.
22. Olschwang S, Serova-Sinilnikova OM, Lenoir GM et al. PTEN germ-line mutations in juvenile polyposis coli. Nat Genet 1998: 18: 12-14.
23. Lynch ED, Ostermeyer EA, Lee MK et al. Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis. Am J Hum Genet 1997: 61: 1254-1260.
24. Eng C, Ji H. Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters. Am J Hum Genet 1998: 62: 1020-1022.
25. Marsh DJ, Kum JB, Lunetta KL et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999: 8: 1461-1472.
26. Zhou X, Hampel H, Thiele H et al. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 2001: 358: 210-211.
27. Hobert JA, Eng C. PTEN hamartoma tumor syndrome: an overview. Genet Med 2009: 11: 687-694.
28. Howe JR, Sayed MG, Ahmed AF et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet 2004: 41: 484-491.
29. Aretz S, Stienen D, Uhlhaas S et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet 2007: 44: 702-709.
30. Schouten JP, McElgunn CJ, Waaijer R et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002: 30: e57.
31. Aretz S, Stienen D, Uhlhaas S et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 2005: 26: 513-519.
32. Gille JJ, Hogervorst FB, Pals G et al. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer 2002: 87: 892-897.
33. Taylor CF, Charlton RS, Burn J et al. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat 2003: 22: 428-433.
34. Sachatello CR, Griffen WO Jr. Hereditary polypoid diseases of the gastrointestinal tract: a working classification. Am J Surg 1975: 129: 198-203.
35. Stemper TJ, Kent TH, Summers RW. Juvenile polyposis and gastrointestinal carcinoma. A study of a kindred. Ann Intern Med 1975: 83: 639-646.
36. Lloyd KM II, Dennis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med 1963: 58: 136-142.
37. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000: 37: 828-830.
38. Gorlin RJ, Cohen MM Jr, Condon LM et al. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1992: 44: 307-314.
39. Eng C. PTEN: one gene, many syndromes. Hum Mutat 2003: 22: 183-198.
40. Jacoby RF, Schlack S, Sekhon G et al. Del(10)(q22.3q24.1) associated with juvenile polyposis. Am J Med Genet 1997: 70: 361-364.
41. Zigman AF, Lavine JE, Jones MC et al. Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. Gastroenterology 1997: 113: 1433-1437.
42. Arch EM, Goodman BK, Van Wesep RA et al. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet 1997: 71: 489-493.
43. Tsuchiya KD, Wiesner G, Cassidy SB et al. Deletion 10q23. 2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome. Genes Chromosomes Cancer 1998: 21: 113-118.
44. Delnatte C, Sanlaville D, Mougenot JF et al. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 2006: 78: 1066-1074.
45. Balciuniene J, Feng N, Iyadurai K et al. Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet 2007: 80: 938-947.
46. Salviati L, Patricelli M, Guariso G et al. Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. Am J Hum Genet 2006: 79: 593-596.
47. Menko FH, Kneepkens CM, de Leeuw N et al. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes. Clin Genet 2008: 74: 145-154.
48. van Hattem WA, Brosens LA, de Leng WW et al. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut 2008: 57: 623-627.
49. Calva-Cerqueira D, Chinnathambi S, Pechman B et al. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet 2009: 75: 79-85.
50. Jass JR. Pathology of polyposis syndromes with special reference to juvenile polyposis. In: Utsunomiya J, Lynch LH, eds. Hereditary colorectal cancer. Tokyo: Springer-Verlag, 1990: 343-350.
51. Calva-Cerqueira D, Dahdaleh FS, Woodfield G et al. Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis. Hum Mol Genet 2010: 19: 4654-4662.
52. Alliman S, Coppinger J, Marcadier J et al. Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2. Clin Genet 2010: 78: 162-168.
53. Sachatello CR, Hahn IS, Carrington CB. Juvenile gastrointestinal polyposis in a female infant: report of a case and review of the literature of a recently recognized syndrome. Surgery 1974: 75: 107-114.
54. Sanlaville D, Delnatte C. Moungenot J-F et al Reply to Salviati et al. Am J Hum Gene 2006: 79: 596-597.