Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome (original) (raw)

• Barber TD, McManus K, Yuen KW et al (2008) Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers. Proc Natl Acad Sci U S A 105:3443–3448
  Article PubMed CAS Google Scholar
• Brachmann W (1916) Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitäten (Zwerghaftigkeit, Halsrippen, Behaarung) [A case of symmetrical monodactyly representing ulnar deficiency, with symmetrical antecubital webbing and other abnormalities (dwarfish, cervical ribs, hirsutism)]. Jahrbuch für Kinderheilkunde und physische Erziehung 84:225–235
  Google Scholar
• de Lange C (1933) Sur un type nouveau de dégéneration (typus Amstelodamnesis) [On a new type of degeneration (type Amstelodamnesis)]. Arch Méd Enfants 36a:713–719
  Google Scholar
• Deardorff MA, Kaur M, Yaeger D et al (2007) Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 80:485–494
  Article PubMed CAS Google Scholar
• Domínguez MG, Rivera H (1992) C-anaphases: a mitotic variant. Ann Genet 35:183–185
  PubMed Google Scholar
• Dorsett D, Krantz ID (2009) On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci 1151:22–37
  Article PubMed CAS Google Scholar
• Gause M, Webber HA, Misulovin Z et al (2008) Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells. Chromosoma 117:51–66
  Article PubMed CAS Google Scholar
• German J (1979) Roberts’ syndrome. I. Cytological evidence for a disturbance in chromatid pairing. Clin Genet 16:441–447
  Article PubMed CAS Google Scholar
• Gervasini C, Pfundt R, Castronovo P et al (2008) Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes. Clin Genet 74:531–538
  Article PubMed CAS Google Scholar
• Guacci V, Koshland D, Strunnikov A (1997) A direct link between sister chromatid cohesion and chromosome condensation revealed through the analysis of MCD1 in S. cerevisiae. Cell 91:47–57
  Article PubMed CAS Google Scholar
• Hanks S, Coleman K, Reid S et al (2004) Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet 36:1159–1161
  Article PubMed CAS Google Scholar
• Ikeuchi T, Yang ZQ, Wakamatsu K, Kajii T (2004) Induction of premature chromatid separation (PCS) in individuals with PCS trait and in normal controls. Am J Med Genet 127A:128–132
  Article PubMed Google Scholar
• Kajii T, Asamoto A (2004) Prenatal diagnosis of a heterozygous carrier of premature chromatid separation (PCS) trait. Am J Med Genet 126A:432
  Article PubMed Google Scholar
• Kajii T, Kawai T, Takumi T et al (1998) Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait. Am J Med Genet 78:245–249
  Article PubMed CAS Google Scholar
• Kaur M, DeScipio C, McCallum J et al (2005) Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am J Med Genet 138:27–31
  Article PubMed Google Scholar
• Kline AD, Krantz ID, Sommer A et al (2007) Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet 143A:1287–1296
  Article PubMed Google Scholar
• Krantz ID, McCallum J, DeScipio C et al (2004) Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631–635
  Article PubMed CAS Google Scholar
• Mann MB, Hodges CA, Barnes E, Vogel H, Hassold TJ, Luo G (2005) Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund–Thomson syndrome. Hum Mol Genet 14:813–825
  Article PubMed CAS Google Scholar
• Méhes K, Bühler EM (1995) Premature centromere division: a possible manifestation of chromosome instability. Am J Med Genet 56:76–79
  Article PubMed Google Scholar
• Méhes K, Kajtár P, Kosztolányi G (2002) Association of nonsyndromic Wilms tumor with premature centromere division (PCD). Am J Med Genet 112:215–216
  Article PubMed Google Scholar
• Michaelis C, Ciosk R, Nasmyth K (1997) Cohesins: chromosomal proteins that prevent premature separation of sister chromatids. Cell 91:35–45
  Article PubMed CAS Google Scholar
• Moorhead PS, Heyman A (1983) Chromosome studies of patients with Alzheimer disease. Am J Med Genet 14:545–556
  Article PubMed CAS Google Scholar
• Musio A, Selicorni A, Focarelli ML et al (2006) X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38:528–530
  Article PubMed CAS Google Scholar
• Plaja A, Mediano C, Cano L et al (2003) Prenatal diagnosis of a rare chromosomal instability syndrome: variegated aneuploidy related to premature centromere division (PCD). Am J Med Genet 117A:85–86
  Article PubMed CAS Google Scholar
• Rao NM, Joshi NN, Shinde SR, Advani SH, Ghosh SN (1996) Premature separation of centromere and aneuploidy: an indicator of high risk in unaffected individuals from familial breast cancer families? Eur J Cancer Prev 5:343–350
  Article PubMed CAS Google Scholar
• Revenkova E, Focarelli ML, Susani L et al (2009) Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet 18:418–427
  Article PubMed CAS Google Scholar
• Rollins RA, Morcillo P, Dorsett D (1999) Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. Genetics 152:577–593
  PubMed CAS Google Scholar
• Rollins RA, Korom M, Aulner N, Martens A, Dorsett D (2004) Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene. Mol Cell Biol 24:3100–3111
  Article PubMed CAS Google Scholar
• Sari N, Akyuz C, Aktas D, et al. (2009) Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer Apr 16 [Epub ahead of print]
• Scappaticci S, Cerimele D, Tondi M, Vivarelli R, Fois A, Fraccaro M (1988) Chromosome abnormalities in tuberous sclerosis. Hum Genet 79:151–156
  Article PubMed CAS Google Scholar
• Selicorni A, Russo S, Gervasini C et al (2007) Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 72:98–108
  Article PubMed CAS Google Scholar
• Shimura M, Tokunaga K, Konishi M et al (2005) Premature sister chromatid separation in HIV-1-infected peripheral blood lymphocytes. AIDS 19:1434–1438
  Article PubMed Google Scholar
• Spremo-Potparević B, Zivković L, Djelić N, Bajić V (2004) Analysis of premature centromere division (PCD) of the X chromosome in Alzheimer patients through the cell cycle. Exp Gerontol 39:849–854
  Article PubMed CAS Google Scholar
• Spremo-Potparević B, Zivković L, Djelić N, Plećas-Solarović B, Smith MA, Bajić V (2008) Premature centromere division of the X chromosome in neurons in Alzheimer’s disease. J Neurochem 106:2218–2223
  Article PubMed CAS Google Scholar
• Strachan T (2005) Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Curr Opin Genet Dev 15:258–264
  Article PubMed CAS Google Scholar
• Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36:636–641
  Article PubMed CAS Google Scholar
• Van Allen MI, Filippi G, Siegel-Bartelt J et al (1993) Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet 47:947–958
  Article PubMed Google Scholar
• Vrouwe MG, Elghalbzouri-Maghrani E, Meijers M et al (2007) Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair. Hum Mol Genet 16:1478–1487
  Article PubMed CAS Google Scholar