Clinical utility gene card for: Cornelia de Lange syndrome

European Journal of Human Genetics

Volumn 23, Issue 10, 2015, Pages

  Ramos, Feliciano J ^a,b   Puisac, Beatriz ^b   Baquero Montoya, Carolina ^c   Gil Rodríguez, Ma Concepción ^b   Bueno, Inés ^a   Deardorff, Matthew A ^d   Hennekam, Raoul C ^e   Kaiser, Frank J ^f   Krantz, Ian D ^d   Musio, Antonio ^g   Selicorni, Angelo ^h   Fitzpatrick, David R ⁱ   Pié, Juan ^b  

^a HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^b UNIVERSITY OF ZARAGOZA   (Spain)

^c HOSPITAL PABLO TOBÓN URIBE   (Colombia)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF LÜBECK   (Germany)

^g CNR   (Italy)

^h UNIVERSITY OF MILANO BICOCCA   (Italy)

ⁱ UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE DEACETYLASE 8;

DE LANGE SYNDROME; FAMILY HISTORY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENETIC SCREENING; HUMAN; MOLECULAR DIAGNOSIS; NIPBL GENE; NOTE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RAD21 GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SMC1A GENE; SMC3 GENE; EXON; FEMALE; GENETICS; GENOTYPE; MALE; MUTATION;

DE LANGE SYNDROME; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION;

EID: 84944158983     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.270     Document Type: Note

References (26)

1. Tonkin ET, Smith M, Eichhorn P et al: A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum Genet 2004; 115: 139-148.
2. 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: 631-635.
3. Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC: High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet 2013; 50: 339-344.
4. Castronovo P, Delahaye-Duriez A, Gervasini C et al: Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Clin Genet 2010; 78: 560-564.
5. Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A: Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 2013; 34: 1589-1596.
6. Musio A, Selicorni A, Focarelli ML et al: X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006; 38: 528-530.
7. Revenkova E, Focarelli ML, Susani L et al: Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet 2009; 18: 418-427.
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: 485-494.
9. Gervasini C, Russo S, Cereda A et al: Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Am J Med Genet A 2013; 161A: 2909-2919.
10. Ansari M, Poke G, Ferry Q et al: Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. J Med Genet 2014; 51: 659-668.
11. Deardorff MA, Wilde JJ, Albrecht M et al: RAD21 mutations cause a human cohesinopathy. Am J Hum Genet 2012; 90: 1014-1027.
12. Minor A, Shinawi M, Hogue J et al: Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene 2014; 537: 279-284.
13. Deardorff MA, Bando M, Nakato R et al: HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 2012; 489: 313-317.
14. Kaiser FJ, Ansari M, Braunholz D et al: Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance. Hum Mol Genet 2014; 23: 2888-2900.
15. Harakalova M, van den Boogaard MJ, Sinke R et al: X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J Med Genet 2012; 49: 539-543.
16. 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: 610-623.
17. Borck G, Zarhrate M, Cluzeau C et al: Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene. Hum Mutat 2006; 27: 731-735.
18. Niu DM, Huang JY, Li HY et al: Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome. Prenat Diagn 2006; 26: 1054-1057.
19. Weichert J, Schröer A, Beyer DA, Gillessen-Kaesbach G, Stefanova I: Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation. J Matern Fetal Neonatal Med 2011; 24: 978-982.
20. Slavin TP, Lazebnik N, Clark DM et al: Germline mosaicism in Cornelia de Lange syndrome. Am J Med Genet A 2012; 158: 1481-1485.
21. Braunholz D, Obieglo C, Parenti I et al: Hidden mutations in CdLS-Limitations of Sanger Sequencing in Molecular Diagnostics. Hum Mutat 2014; doi:10.1002/humu. 22685 [Epub ahead of print].
22. Slavotinek AM.: Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A 2004; 124A: 427-433.
23. Douzgou S, Breen C, Crow YJ et al: Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies. Arch Dis Child 2012; 97: 812-817.
24. Schrier SA, Bodurtha JN, Burton B et al: The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A 2012; 158A: 1865-1876.
25. Santen GW, Aten E, Vulto-van Silfhout AT et al: Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat 2013; 34: 1519-1528.
26. Mariani M, Bettini LR, Cereda A et al: Germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures. Am J Med Genet A 2013; 161A: 1825-1826.