Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2499-2505

  Chatfield, Kathryn C ^a,b   Schrier, Samantha A ^b   Li, Jennifer ^b   Clark, Dinah ^b   Kaur, Maninder ^b   Kline, Antonie D ^c   Deardorff, Matthew A ^b   Jackson, Laird S ^d   Goldmuntz, Elizabeth ^b   Krantz, Ian D ^b  

^a CHILDREN S HOSPITAL   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c GREATER BALTIMORE MEDICAL CENTER   (United States)

^d DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Cohesin; Congenital heart disease (CHD); Cornelia de Lange syndrome (CdLS); Mutation; NIPBL; Phenotype; SMC1A; SMC3

Indexed keywords

ADULT; ARTICLE; COHORT ANALYSIS; CONGENITAL HEART DISEASE; DE LANGE SYNDROME; DISEASE SEVERITY; FETUS; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MEDICAL RECORD REVIEW; MORBIDITY; MORTALITY; NIPBL GENE; PHENOTYPE; PRIORITY JOURNAL; SMC1A GENE; SMC3 GENE;

CELL CYCLE PROTEINS; CHONDROITIN SULFATE PROTEOGLYCANS; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MUTATION; PHENOTYPE; PROTEINS; SEVERITY OF ILLNESS INDEX;

EID: 84866502248     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35582     Document Type: Article

References (18)

1. Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, Wellesley D, Dolk H. 2008. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet Part A 146A: 51-59.
2. Beck B, Fenger K. 1985. Mortality, pathological findings and causes of death in the de Lange syndrome. Acta Paediatr Scand 74: 765-769.
3. 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, 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.
4. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li H, 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.
5. Hawley PP, Jackson LG, Kurnit DM. 1985. Sixty-four patients with Brachmann-de Lange syndrome: A survey. Am J Med Genet 20: 453-459.
6. Jackson L, Kline AD, Barr MA, Koch S. 1993. de Lange syndrome: A clinical review of 310 individuals. Am J Med Genet 47: 940-946.
7. Kawauchi S, Calof AL, Santos R, Lopez-Burks ME, Young CM, Hoang MP, Chua A, Lao T, Lechner MS, Daniel JA, Nussenzweig A, Kitzes L, Yokomori K, Hallgrimsson B, Lander AD. 2009. Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange syndrome. PLoS Genet 5: e1000650.
8. Kousseff BG, Newkirk P, Root AW. 1994. Brachmann-de Lange syndrome. 1994 update. Arch Pediatr Adolesc Med 148: 749-755.
9. 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.
10. Mehta AV, Ambalavanan SK. 1997. Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome. Am J Med Genet 71: 434-435.
11. 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.
12. Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA. 2010. Facial Diagnosis of mild and variant CdLS: Insights from a dysmorphoogist survey. Am J Med Genet Part A 152A: 1641-1653.
13. Robinson LK, Wolfsberg E, Jones KL. 1985. Brachmann-de Lange syndrome: Evidence for autosomal dominant inheritance. Am J Med Genet 22: 109-115.
14. Schrier SA, Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG. 2011. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am J Med Genet Part A 155A: 3007-3024.
15. 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.
16. Selicorni A, Colli AM, Passarini A, Milani D, Cereda A, Cerutti M, Maitz S, Alloni V, Salvini L, Galli MA, Ghiglia S, Salice P, Danzi GB. 2009. Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. Am J Med Genet Part A 149A: 1268-1272.
17. Tonkin ET, Wang T, 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.
18. Tsukahara M, Okamoto N, Ohashi H, Kuwajima K, Kondo I, Sugie H, Nagai T, Naritomi K, Hasegawa T, Fukushima Y, Masuno M, Kuroki Y. 1998. Brachmann-de Lange syndrome and congenital heart disease. Am J Med Genet 75: 441-442.