Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

European Journal of Human Genetics

Volumn 19, Issue 9, 2011, Pages 947-958

  Mitter, Diana ^a   Ullmann, Reinhard ^b   Muradyan, Artur ^b   Klein Hitpaß, Ludger ^c   Kanber, Deniz ^a   Õunap, Katrin ^d   Kaulisch, Marc ^e   Lohmann, Dietmar ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

^d TARTU UNIVERSITY HOSPITAL   (Estonia)

^e Institute for Research Information and Quality Assurance   (Germany)

Author keywords

array CGH analysis; interstitial 13q deletion; retinoblastoma

Indexed keywords

ARTICLE; BODY HEIGHT; BRAIN MALFORMATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 13; CONGENITAL HEART MALFORMATION; CONSTIPATION; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA MICROARRAY; FEEDING DISORDER; FEMALE; GENE INSERTION; GENOME; GENOTYPE; HEARING IMPAIRMENT; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR ACTIVITY; RB1 GENE; RETINOBLASTOMA; SEIZURE; SPEECH DISORDER; TUMOR SUPPRESSOR GENE;

EID: 85027924732     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.58     Document Type: Article

References (44)

1. Albrecht P, Ansperger-Rescher B, Schü ler A, Zeschnigk M, Gallie B, Lohmann DR: Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression. Hum Mutat 2005; 26: 437-445. (Pubitemid 41572450)
2. Bunin GR, Emanuel BS, Meadows AT, Buckley JD, Woods WG, Hammond GD: Frequency of 13q abnormalities among 203 patients with retinoblastoma. J Natl Cancer Inst 1989; 81: 370-374. (Pubitemid 19065072)
3. Matsunaga E: Retinoblastoma: host resistance and 13q- chromosomal deletion. Hum Genet 1980; 56: 53-58. (Pubitemid 10016511)
4. Brown S, Russo J, Chitayat D, Warburton D: The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 1995; 57: 859-866.
5. Motegi T, Kaga M, Yanagawa Y et al: A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q. Hum Genet 1983; 64: 160-162. (Pubitemid 13040919)
6. Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F: Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet 1999; 55: 478-482. (Pubitemid 29335647)
7. Bojinova RI, Schorderet DF, Addor MC et al: Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients. Ophthalmic Genet 2001; 22: 11-18. (Pubitemid 32231838)
8. Shanske A, Ferreira JC, Leonard JC, Fuller P, Marion RW: Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet 2001; 102: 231-236. (Pubitemid 32730271)
9. Skrypnyk C, Bartsch O: Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14. Am J Med Genet A 2004; 124: 397-401. (Pubitemid 38141383)
10. Slavotinek AM, Lacbawan F: Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature. Clin Dysmorphol 2003; 12: 195-196. (Pubitemid 36900647)
11. Weigel BJ, Pierpont ME, Young TL, Mutchler SB, Neglia JP: Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. Am J Med Genet 1998; 77: 285-288. (Pubitemid 28208720)
12. Zaborowski AG, Kruse CH, Kavonic S, Pergorano RJ: Retinoblastoma and Hirschsprung disease with a 13q14 to 22 deletion. J Pediatr Ophthalmol Strabismus 2008; 45: 366-367.
13. Ballarati L, Rossi E, Bonati MT et al: 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet 2007; 44: e60.
14. Caselli R, Speciale C, Pescucci C et al: Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH. J Hum Genet 2007; 52: 535-542. (Pubitemid 46835830)
15. Kogan JM, Egelhoff JC, Saal HM: Interstitial deletion of 13q associated with polymicrogyria. Am J Med Genet A 2008; 146: 910-916. (Pubitemid 351499797)
16. Toguchida J, McGee TL, Paterson JC et al: Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics 1993; 17: 535-543. (Pubitemid 23282803)
17. Yandell DW, Dryja TP: Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet 1989; 45: 547-555. (Pubitemid 19261442)
18. Kanber D, Berulava T, Ammerpohl O et al: The human retinoblastoma gene is imprinted. PLoS Genet 2009; 5: e1000790.
19. Roth DB, Porter TN, Wilson JH: Mechanisms of nonhomologous recombination in mammalian cells. Mol Cell Biol 1985; 5: 2599-2607. (Pubitemid 15249545)
20. Shaw CJ, Lupski JR: Implications of human genome architecture for rearrangementbased disorders: the genomic basis of disease. Hum Mol Genet 2004; 13 (Spec No 1): R57-R64. (Pubitemid 38443799)
21. Dryja TP, Mukai S, Petersen R, Rapaport JM, Walton D, Yandell DW: Parental origin of mutations of the retinoblastoma gene. Nature 1989; 339: 556-558. (Pubitemid 19152098)
22. Lohmann DR, Brandt B, Hopping W, Passarge E, Horsthemke B: The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am J Hum Genet 1996; 58: 940-949. (Pubitemid 26115165)
23. Shlien A, Baskin B, Achatz MI et al: A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. Am J Hum Genet 2010; 87: 631-642.
24. Rachez C, Lemon BD, Suldan Z et al: Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex. Nature 1999; 398: 824-828.
25. Gombos DS, Hungerford J, Abramson DH et al: Secondary acute myelogenous leukemia in patients with retinoblastoma: is chemotherapy a factor? Ophthalmology 2007; 114: 1378-1383. (Pubitemid 47008929)
26. Wooster R, Bignell G, Lancaster J et al: Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378: 789-792. (Pubitemid 26004412)
27. Kiss P, Osztovics M: Association of 13q deletion and Hirschsprung's disease. J Med Genet 1989; 26: 793-794. (Pubitemid 20008552)
28. Lamont MA, Fitchett M, Dennis NR: Interstitial deletion of distal 13q associated with Hirschsprung's disease. J Med Genet 1989; 26: 100-104. (Pubitemid 19047359)
29. Tuysuz B, Collin A, Arapoglu M, Suyugul N: Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus. Am J Med Genet A 2009; 149A: 2290-2295.
30. Kirchhoff M, Bisgaard AM, Stoeva R et al: Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1- qter. Am J Med Genet A 2009; 149A: 894-905.
31. Strehl S, Glatt K, Liu QM, Glatt H, Lalande M: Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14. Genomics 1998; 53: 81-89. (Pubitemid 28489648)
32. McKee KK, Tan CP, Palyha OC et al: Cloning and characterization of two human G protein-coupled receptor genes (GPR38 and GPR39) related to the growth hormone secretagogue and neurotensin receptors. Genomics 1997; 46: 426-434. (Pubitemid 28063291)
33. Bardoni B, Schenck A, Mandel JL: A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein. Hum Mol Genet 1999; 8: 2557-2566.
34. Puffenberger EG, Hosoda K, Washington SS et al: A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994; 79: 1257-1266.
35. Khong TY, Ford WD, Haan EA: Umbilical cord ulceration in association with intestinal atresia in a child with deletion 13q and Hirschsprung's disease. Arch Dis Child Fetal Neonatal Ed 1994; 71: F212-F213.
36. Van Camp G, Van Thienen MN, Handig I et al: Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. J Med Genet 1995; 32: 531-536.
37. Rodjan F, de Graaf P, Moll AC et al: Brain Abnormalities on MR Imaging in Patients with Retinoblastoma. AJNR Am J Neuroradiol 2010; 31: 1385-1389.
38. Alanay Y, Aktas D, Utine E et al: Is Dandy-Walker malformation associated with 'distal 13q deletion syndrome'? Findings in a fetus supporting previous observations. Am J Med Genet A 2005; 136: 265-268. (Pubitemid 40967093)
39. Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D: A chromosomal deletion map of human malformations. Am J Hum Genet 1998; 63: 1153-1159. (Pubitemid 30418586)
40. Christofolini DM, Yoshimoto M, Squire JA, Brunoni D, Melaragno MI, Carvalheira G: Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis. Am J Med Genet A 2006; 140: 1321-1325. (Pubitemid 43835421)
41. Gutierrez J, Sepulveda W, Saez R, Carstens E, Sanchez J: Prenatal diagnosis of 13qsyndrome in a fetus with holoprosencephaly and thumb agenesis. Ultrasound Obstet Gynecol 2001; 17: 166-168.
42. Quelin C, Bendavid C, Dubourg C et al: Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur J Med Genet 2009; 52: 41-46.
43. Tranebjaerg L, Nielsen KB, Tommerup N, Warburg M, Mikkelsen M: Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. Am J Med Genet 1988; 29: 739-753.
44. Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A et al: Chromosome deletions in 13q33-34: report of four patients and review of the literature. Am J Med Genet A 2008; 146: 337-342. (Pubitemid 351212834)