Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome (J Appl Genet., (2012), 10.1007/s13353-012-0126-9);Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

Journal of Applied Genetics

Volumn 54, Issue 1, 2013, Pages 27-33

  Kuzniacka, Alina ^a   Wierzba, Jolanta ^a   Ratajska, Magdalena ^a   Lipska, Beata S ^a   Koczkowska, Magdalena ^a   Malinowska, Monika ^a   Limon, Janusz ^a  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

Author keywords

Cornelia de Lange syndrome; Large genomic rearrangements; NIPBL gene; Point mutations

Indexed keywords

COMPLEMENTARY DNA; NUCLEOTIDE;

COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DE LANGE SYNDROME; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FEMALE; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NIPBL GENE; POINT MUTATION; POLAND; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW;

EID: 84872661121     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-013-0138-0     Document Type: Erratum

References (33)

1. Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, Wellesley D, Dolk H; EUROCAT Working Group (2008) Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A 146A: 51-59.
2. Beck B (1976) Epidemiology of Cornelia de Lange's syndrome. Acta Paediatr Scand 65: 631-638.
3. Bhuiyan ZA, Klein M, Hammond P, van Haeringen A, Mannens MM, van Berckelaer-Onnes I, Hennekam RC (2006) Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. J Med Genet 43: 568-575.
4. Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MM, Hennekam RC (2007) Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet 15: 505-508.
5. Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter NP, Munnich A, Colleaux L, Cormier-Daire V (2004) NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med Genet 41: e128.
6. Bose T, Gerton JL (2010) Cohesinopathies, gene expression, and chromatin organization. J Cell Biol 189: 201-210.
7. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID (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.
8. Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ (2012a) RAD21 mutations cause a human cohesinopathy. Am J Hum Genet 90: 1014-1027.
9. Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K (2012b) HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 489: 313-317.
10. DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID (2005) Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): report of a der(3)t(3; 12)(p25. 3; p13. 3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A 137A: 276-282.
11. Dorsett D (2011) Cohesin: genomic insights into controlling gene transcription and development. Curr Opin Genet Dev 21: 199-206.
12. Dorsett D, Krantz ID (2009) On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci 1151: 22-37.
13. Feeney KM, Wasson CW, Parish JL (2010) Cohesin: a regulator of genome integrity and gene expression. Biochem J 428: 147-161.
14. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID (2004) NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75: 610-623.
15. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A (2007) Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 143A: 1287-1296.
16. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG (2004) Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36: 631-635.
17. Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Clark D, Kaur M, Tandy S, Kondoh T, Rappaport E, Spinner NB, Vega H, Jackson LG, Shirahige K, Krantz ID (2009) Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol 7: e1000119.
18. Miyake N, Visser R, Kinoshita A, Yoshiura K, Niikawa N, Kondoh T, Matsumoto N, Harada N, Okamoto N, Sonoda T, Naritomi K, Kaname T, Chinen Y, Tonoki H, Kurosawa K (2005) Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. Am J Med Genet A 135: 103-105.
19. Murray JE, Walayat M, Gillett P, Sharkey FH, Rajan D, Carter NP, Fitzpatrick DR (2012) An atypical facial appearance and growth pattern in a child with Cornelia de lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL. Clin Dysmorphol 21: 22-23.
20. Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L (2006) X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38: 528-530.
21. Oliveira J, Dias C, Redeker E, Costa E, Silva J, Reis Lima M, den Dunnen JT, Santos R (2010) Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. Hum Mutat 31: 1216-1222.
22. Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, Fitzpatrick DR, Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RC (2010) Cornelia de Lange syndrome: extending the physical and psychological phenotype. Am J Med Genet A 152A: 1127-1135.
23. Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR (2012) NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med 14: 313-322.
24. Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ (2010) Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A 152A: 924-929.
25. Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J (2010) Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet 53: 378-382.
26. Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID (2001) Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences. Am J Med Genet 104: 267-276.
27. Russo S, Masciadri M, Gervasini C, Azzollini J, Cereda A, Zampino G, Haas O, Scarano G, Di Rocco M, Finelli P, Tenconi R, Selicorni A, Larizza L (2012) Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. Eur J Hum Genet 20: 734-741.
28. Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, Staaf J, Thuresson AC, Borg A, Nordgren A, Malm G, Anderlid BM (2007) Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Eur J Hum Genet 15: 143-149.
29. Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, Bentivegna A, Masciadri M, Domi A, Divizia MT, Sforzini C, Tarantino E, Memo L, Scarano G, Larizza L (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.
30. 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.
31. Wierzba J, Kuzniacka A, Ratajska M, Lipska BS, Kardas I, Iliszko M, Limon J (2011) Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3; 5)(p13; q11). Clin Dysmorphol 20: 222-224.
32. Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J (2006) Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet A 140: 1531-1541.
33. Zhang B, Chang J, Fu M, Huang J, Kashyap R, Salavaggione E, Jain S, Kulkarni S, Deardorff MA, Uzielli ML, Dorsett D, Beebe DC, Jay PY, Heuckeroth RO, Krantz I, Milbrandt J (2009) Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies. PLoS One 4: e5232.