Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally

Prenatal Diagnosis

Volumn 34, Issue 2, 2014, Pages 163-167

  Dempsey, M A ^a   Knight Johnson, A E ^a   Swope, B S ^b   Moldenhauer, J S ^b   Sroka, H ^c   Chong, K ^c   Chitayat, D ^c   Briere, L ^d   Lyon, H ^d   Palmer, N ^e   Gopalani, S ^e   Siebert, J R ^f,g   Levesque S ^h,i   Leblanc, J ⁱ   Menzies, D ^j   Haverfield, E ^a   Das, S ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c MOUNT SINAI HOSPITAL   (Canada)

^d BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^e SWEDISH MEDICAL CENTER   (United States)

^f SEATTLE CHILDREN S HOSPITAL   (United States)

^g UNIVERSITY OF WASHINGTON   (United States)

^h CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

ⁱ CHICOUTIMI HOSPITAL   (Canada)

^j LAVAL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NIPBL PROTEIN, HUMAN; PROTEIN;

COHORT ANALYSIS; COMPLICATION; DE LANGE SYNDROME; DNA SEQUENCE; ECHOGRAPHY; FEMALE; FETUS ECHOGRAPHY; GENETICS; HUMAN; MICROGNATHISM; MUTATION; NEWBORN; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDY; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

COHORT STUDIES; DE LANGE SYNDROME; FEMALE; HUMANS; INFANT, NEWBORN; MICROGNATHISM; MUTATION; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PRENATAL DIAGNOSIS; PROTEINS; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; ULTRASONOGRAPHY, PRENATAL; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

EID: 84895069038     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4279     Document Type: Article

References (31)

1. Deardorff M, Clark D, Krantz I. Cornelia de Lange syndrome. In GeneReviews [Internet], Pagon R, Bird T, Dolan C (eds). Seattle: University of Washington, 2005.
2. Gillis LA, McCallum J, Kaur M, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 2004;75(4):610-23.
3. Krantz ID, McCallum J, DeScipio C, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004;36(6):631-5.
4. Tonkin ET, Wang TJ, Lisgo S, et al. 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(6):636-41.
5. Musio A, Selicorni A, Focarelli ML, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006;38(5):528-30.
6. Deardorff MA, Wilde JJ, Albrecht M, et al. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet 2012;90(6):1014-27.
7. Deardorff MA, Bando M, Nakato R, et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 2012;489(7415):313-7.
8. Deardorff MA, Kaur M, Yaeger D, et al. 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 2007;80(3):485-94.
9. Kliewer MA, Kahler SG, Hertzberg BS, Bowie JD. Fetal biometry in the Brachmann-de Lange syndrome. Am J Med Genet 1993;47(7):1035-41.
10. Kline AD, Barr M, Jackson LG. Growth manifestations in the Brachmann-de Lange syndrome. Am J Med Genet 1993;47(7):1042-9.
11. Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993;47(7):940-6.
12. Mehta AV, Ambalavanan SK. Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome. Am J Med Genet 1997;71(4):434-5.
13. Tsukahara M, Okamoto N, Ohashi H, et al. Brachmann-de Lange syndrome and congenital heart disease. Am J Med Genet 1998;75(4):441-2.
14. Westergaard JG, Chemnitz J, Teisner B, et al. Pregnancy-associated plasma protein A: a possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome. Prenat Diagn 1983;3(3):225-32.
15. Aitken DA, Ireland M, Berry E, et al. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenat Diagn 1999;19(8):706-10.
16. Huang WH, Porto M. Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome. Obstet Gynecol 2002;99(5 Pt 2):956-8.
17. Sekimoto H, Osada H, Kimura H, et al. Prenatal findings in Brachmann-de Lange syndrome. Arch Gynecol Obstet 2000;263(4):182-4.
18. Manouvrier S, Espinasse M, Vaast P, et al. Brachmann-de Lange syndrome: pre- and postnatal findings. Am J Med Genet 1996;62(3):268-73.
19. Boog G, Sagot F, Winer N, et al. Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay. Eur J Obstet Gynecol Reprod Biol 1999;85(2):173-7.
20. Urban M, Hartung J. Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome. Am J Med Genet 2001;102(1):73-5.
21. Lee W, McNie B, Chaiworapongsa T, et al. Three-dimensional ultrasonographic presentation of micrognathia. J Ultrasound Med 2002;21(7):775-81.
22. Le Vaillant C, Quere MP, David A, et al. Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography. Fetal Diagn Ther 2004;19(2):155-9.
23. Kanellopoulos V, Iavazzo C, Tzanatou C, et al. A case of third trimester diagnosis of Cornelia de Lange syndrome. Arch Gynecol Obstet 2011;283(1):59-63.
24. Wilmink FA, Papatsonis DN, Grijseels EW, Wessels MW. Cornelia de lange syndrome: a recognizable fetal phenotype. Fetal Diagn Ther 2009;26(1):50-3.
25. Lalatta F, Russo S, Gentilin B, et al. Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL. Genet Med 2007;9(3):188-94.
26. Marino T, Wheeler PG, Simpson LL, et al. Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome. Prenat Diagn 2002;22(2):144-7.
27. Dillon E, Renwick M, Wright C. Congenital diaphragmatic herniation: antenatal detection and outcome. Br J Radiol 2000;73(868):360-5.
28. Pajkrt E, Griffin DR, Chitty LS. Brachmann-de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis. Prenat Diagn 2010;30(9):865-72.
29. Clark DM, Sherer I, Deardorff MA, et al. Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. Am J Med Genet A 2012;158A(8):1848-56.
30. Chong K, Keating S, Hurst S, et al. Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat Diagn 2009;29(5):489-94.
31. Slavin TP, Lazebnik N, Clark DM, et al. Germline mosaicism in Cornelia de Lange syndrome. Am J Med Genet A 2012;158A(6):1481-5.