Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation

Congenital Anomalies

Volumn 50, Issue 2, 2010, Pages 129-132

  Hosokawa, Shinichi ^a   Takahashi, Nobumasa ^a   Kitajima, Hiroyuki ^a   Nakayama, Masahiro ^a   Kosaki, Kenjirou ^a   Okamoto, Nobuhiko ^b  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b KEIO UNIVERSITY   (Japan)

Author keywords

Brachmann de Lange syndrome; Congenital diaphragmatic hernia; Denaturing high performance liquid chromatography; Direct sequence method; Gene mutation

Indexed keywords

CYTOSINE; THYMINE; NIPBL PROTEIN, HUMAN; PROTEIN; STOP CODON;

ARTICLE; CASE REPORT; CESAREAN SECTION; CONGENITAL DIAPHRAGM HERNIA; DE LANGE SYNDROME; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ENDOTRACHEAL INTUBATION; EXON; FEMALE; GENE; GENE SEQUENCE; GENETIC VARIABILITY; GESTATIONAL AGE; HUMAN; INFANT; NEWBORN DEATH; NIPBL GENE; NONSENSE MUTATION; PRIORITY JOURNAL; RESUSCITATION; RNA TRANSLATION; DIAPHRAGM HERNIA; FETUS ECHOGRAPHY; GENETICS; MORTALITY; MUTATION; NEWBORN; PREGNANCY; STOP CODON; YOUNG ADULT;

CODON, NONSENSE; DE LANGE SYNDROME; FEMALE; HERNIA, DIAPHRAGMATIC; HERNIAS, DIAPHRAGMATIC, CONGENITAL; HUMANS; INFANT, NEWBORN; MUTATION; PREGNANCY; PROTEINS; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 77952580616     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/j.1741-4520.2010.00270.x     Document Type: Article

References (17)

1. Beck B (1976) Epidemiology of Cornelia de Lange's syndrome. Acta Pediatr Scand 65 : 631 638.
2. Beck B, Fenger K (1985) Mortality, pathological findings and causes of death in the de Lange syndrome. Acta Paediatr Sca 74 : 765 769.
3. Bhuiyan ZA, Klein M, Hammond P et al. (2006) Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience. J Med Genet 43 : 568 575.
4. Bianch DW, Crombleholme T, D'Alton ME (2000) Fetology, 1st edn. McGraw-Hill
5. Brachmann W (1916) Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftogkeit, halsrippen, behaarung). Jerb Kinder Phys Erzie 84 : 225 235 (in German C, Curry CJ, Carey JC et al. (1993) Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. Am J Med Genet 47 : 1018 1021.
6. de Lange C (1933) Sur un type nouveau de degenerescence (typus Amstelodemensis). Arch Med Enfants 36 : 713 719 in French 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.
7. Gillis LA, McCallum J, Kaur M et al. (2004) NIPBL mutation analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75 : 610 623.
8. Holder AM, Klaassens M, Tibboel D et al. (2007) Genetic factors in congenital diaphragmatic hernia. Am J Genet 80 : 825 845. (Pubitemid 46668452)
9. Kenneth LJ (1988) Smith's Recognizable Patterns of Human Malformation, 6th edn. Elsevier Saunders
10. 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. Nature Genet 36 : 631 635.
11. Kuroiwa M, Matsuyama S, Suzuki N et al. (1990) [Cornelia de Lange syndrome with the right Bochdalek hernia: A case report with special reference to associated gastroesophageal disorders.]. Nippon Shounigeka Gakkai Zasshi 26 : 974 980 (In Japanese T, Wheeler PG, Simpson LL et al. (2002) Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome. Prenat Diagn 22 : 144 147.
12. Musio A, Selicorni A, Focarelli ML et al. (2006) X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38 : 528 530.
13. Opitz JM (1985) Editorial comment: the Brachmann de Lange syndrome. Am J Med Genet 22 : 89 102.
14. Russel DJ, Nelson BI, Nadya JK et al. (1993) Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome. Am J Med Genet 47 : 1022 1023.
15. Schoumans J, Wincent J, Barbaro M et al. (2007) Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Eur J Hum Genet 15 : 143 149.
16. Suzuki S, Mukai K, Takei Y et al. (1999) [A autopsy report of Cornelia de Lange syndrome.]. Shounika Rinshou 52 : 1967 1972 (In Japanese D, Gaag AVD (1996) Etiological genetic factors in congenital diaphragmatic hernia. Clin Perinatol 23 : 689 699.
17. Tonkin ET, Wang TJ, Lisgo S et al. (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genet 36 : 636 641.