Cornelia de lange syndrome with NIPBL gene mutation: A case report

Journal of Korean Medical Science

Volumn 25, Issue 12, 2010, Pages 1821-1823

  Park, Kyung Hee ^a   Lee, Seung Tae ^b   Ki, Chang Seok ^b   Byun, Shin Yun ^c  

^a Pusan National University School of Medicine   (South Korea)

^b Sungkyunkwan University   (South Korea)

^c Yangsan Hospital   (South Korea)

Author keywords

De lange syndrome; Genes; NIPBL

Indexed keywords

NIPBL PROTEIN, HUMAN; PROTEIN;

ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DE LANGE SYNDROME; DNA SEQUENCE; ECHOGRAPHY; GENETICS; HETEROZYGOTE; HUMAN; MALE; NEWBORN; STOP CODON;

CODON, NONSENSE; CODON, TERMINATOR; DE LANGE SYNDROME; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; PROTEINS; SEQUENCE ANALYSIS, DNA; TOMOGRAPHY, X-RAY COMPUTED;

EID: 78649941300     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2010.25.12.1821     Document Type: Article

References (20)

1. Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993; 47: 940-6.
2. Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 1993; 47: 959-64.
3. 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. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004; 36: 631-5.
4. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 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 2004; 36: 636-41.
5. Mun YR, Ahn SI, Yang KS. De Lange syndrome. J Korean Med Assoc 1967; 10: 455-60.
6. Lee SH, Jang JW, Kim IS, Kim WD, Lee SG. A case of Cornelia de Lange syndrome with imperforate anus. J Korean Soc Neonatol 2007; 14: 253-7.
7. Kim IT, Park JW, Choi WC. A Korean case of Cornelia de Lange syndrome.Korean J Ophthalmol 2005; 19: 153-5.
8. Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr. Radiological features in Brachmann-de Lange syndrome. Am J Med Genet 1993; 47: 1006-13.
9. Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A, Reynolds JF. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet 1993; 47: 947-58.
10. Beck B. Epidermiology of Cornelia de Lange's syndrome. Acta Paediatr Scand 1976; 65: 631-8.
11. Opitz JM. The Brachmann-de Lange Syndrome. Am J Med Genet 1985; 22: 89-102.
12. 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. Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol 2009; 7: e1000119.
13. Rollins RA, Morcillo P, Dorsett D. Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. Genetics 1999; 152: 577-93.
14. Strachan T. Cornelia de Lange syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Curr Opin Genet Dev 2005; 15: 258-64.
15. Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006; 38: 528-30.
16. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype phenotype correlations. Am J Hum Genet 2004; 75: 610-23.
17. Uzun H, Senses DA, Uluba M, Kocabay K. A newborn with Cornelia de Lange syndrome: a case report. Cases J 2008; 1: 329.
18. 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. Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 2007; 80: 485-94.
19. Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 2007; 145C: 248-60.
20. Su PH, Yu JS, Chen SJ, Chen JY. Identification of a novel mutation and polymorphic change in the NIPBL gene of subjects with Cornelia de Lange syndrome. Genes Genomics 2008; 30: 253-60.