Special cases in Cornelia de Lange syndrome: The Spanish experience

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 172, Issue 2, 2016, Pages 198-205

  Pié, Juan ^a   Puisac, Beatriz ^a   Hernández Marcos, Maria ^a   Teresa Rodrigo, Maria Esperanza ^a   Gil Rodríguez, Maria ^a   Baquero Montoya, Carolina ^a   Ramos Cáceres, Maria ^a   Bernal, Maria ^a   Ayerza Casas, Ariadna ^a   Bueno, Inés ^a   Gómez Puertas, Paulino ^a   Ramos, Feliciano J ^a  

^a NONE

Author keywords

Cornelia de Lange syndrome; NIPBL; somatic mosaicism; splicing variants

Indexed keywords

DE LANGE SYNDROME; DISEASE SEVERITY; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; LEG MALFORMATION; MOSAICISM; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NIPBL GENE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RNA SPLICING; SMC1A GENE; TURNER SYNDROME; GENETIC ASSOCIATION STUDY; GENETICS; MALE; PATHOLOGY; SPAIN;

NIPBL PROTEIN, HUMAN; PROTEIN;

DE LANGE SYNDROME; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; PROTEINS; SPAIN;

EID: 84966679983     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31501     Document Type: Review

References (30)

1. Baker PR, Tsai AC, Springer M, Swisshelm K, March J, Brown K, Bellus G. 2010. Male with mosaicism for supernumerary ring X chromosome: Analysis of phenotype and characterization of genotype using array comparative genome hybridization. J Craniofac Surg 21:1369–1375.
2. Baquero-Montoya C, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J. 2014a. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. Eur J Med Genet 57:503–509.
3. Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Teresa-Rodrigo ME, Obieglo C, Gener B, Schwarzmayr T, Strom TM, Gómez-Puertas P, Puisac B, Gillessen-Kaesbach G, Musio A, Ramos FJ, Kaiser FJ, Pié J. 2014b. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. Clin Genet 86:595–597.
4. Baquero-Montoya C, Gil-Rodríguez MC, Teresa-Rodrigo ME, Hernández-Marcos M, Bueno-Lozano G, Bueno-Martínez I, Remeseiro S, Fernández-Hernández R, Bassecourt-Serra M, Rodríguez de Alba M, Queralt E, Losada A, Puisac B, Ramos FJ, Pié J. 2014c. Could a patient with SMC1A duplication be classified as a human cohesinopathy? Clin Genet 85:446–451.
5. Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, Wellesley D, Dolk H. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A 146A:51–59.
6. Deardorff MA, Noon SE, Krantz ID. 2016. Cornelia de Lange Syndrome. Gene Reviews [Internet]. Initial Posting: September 16, 2005; Last Update: January 28, 2016.
7. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, 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.
8. Gil-Rodríguez MC, Baquero-Montoya C, Wierzba J, Puisac B, Teresa-Rodrigo ME, Hernández-Marcos M, Polucha A, Winnicka D, Vicente-Gabás A, Flórez-Gómez O, Bueno-Lozano G, Limon J, Ramos FJ, Pié J. 2014. Coexistence of two rare genetic disorders: Cornelia de Lange syndrome and Turner syndrome. In: Introduction to Clinical Methods in Neurological Disorders. iConceptPress. p 55–72.
9. Hoppman-Chaney N, Jang JS, Jen J, Babovic-Vuksanovic D, Hodge JC. 2011. In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. Am J Med Genet A 158A:193–198.
10. Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC. 2013. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet 50:339–344.
11. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. 2007. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 143A:1287–1296.
12. Klosovskiĭ BN, Iankova MF, Fateeva EM, Damanskaia LIu. 1968. On the problem of the De Lange's syndrome. Pediatriia 47:33–39.
13. Le Caignec C, Boceno M, Joubert M, Winer N, Aubron F, Fallet-Bianco C, Rival JM. 2003. Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus. Prenat Diagn 23:143–145.
14. Liehr T, Cirkovic S, Lalic T, Guc-Scekic M, de Almeida C, Weimer J, Iourov I, Melaragno MI, Guilherme RS, Stefanou EG, Aktas D, Kreskowski K, Klein E, Ziegler M, Kosyakova N, Volleth M, Hamid AB. 2013. Complex small supernumerary marker chromosomes—An update. Mol Cytogenet 6:46.
15. Liu J, Krantz ID. 2008. Cohesin and human disease. Annu Rev Genomics Hum Genet 9:303–320.
16. Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A. 2013. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 34:1589–1596.
17. Mehta GD, Kumar R, Srivastava S, Ghosh SK. 2013. Cohesin: Functions beyond sister chromatid cohesion. FEBS Lett 587:2299–2312.
18. Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. 2010. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A 152A:924–929.
19. Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J. 2015. Clinical utility gene card for: Cornelia de Lange syndrome. Eur J Hum Genet 23:e1–e4.
20. Rohlin A, Wernersson J, Engwall Y, Wiklund L, Björk J, Nordling M. 2009. Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques. Hum Mutat 30:1012–1020.
21. Santos M, Mrasek K, Rigola MA, Starke H, Liehr T, Fuster C. 2007. Identification of a “cryptic mosaicism” involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success. Fertil Steril 88:969.
22. 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.
23. Strachan T. 2005. Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair, and developmental gene regulation. Curr Opin Genet Dev 15:258–264.
24. Tazi J, Bakkour N, Stamm S. 2009. Alternative splicing and disease. Biochim Biophys Acta 1792:14–26.
25. Teresa-Rodrigo ME, Eckhold J, Puisac B, Dalski A, Gil-Rodríguez MC, Braunholz D, Baquero C, Hernández-Marcos M, de Karam JC, Ciero M, Santos-Simarro F, Lapunzina P, Wierzba J, Casale CH, Ramos FJ, Gillessen-Kaesbach G, Kaiser FJ, Pié J. 2014. Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome. Int J Mol Sci 15:10350–10364.
26. Teresa-Rodrigo ME, Eckhold J, Puisac B, Pozojevic J, Parenti I, Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Dalski A, Hernández-Marcos M, Ayerza A, Bernal ML, Ramos FJ, Wieczorek D, Gillessen-Kaesbach G, Pié J, Kaiser FJ. 2016. Identification and functional characterization of two intronic NIPBL mutations in two patients with Cornelia de Lange Syndrome. BioMed Res Int 2016:8742939.
27. Tonkin ET, Wang TJ, 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.
28. Wierzba J, Gil-Rodríguez MC, Polucha A, Puisac B, Arnedo M, Teresa-Rodrigo ME, Winnicka D, Hegardt FG, Ramos FJ, Limon J, Pié J. 2012. Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual. BMC Med Genet 13:43.
29. Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR. 2009. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet 46:626–634.
30. Youssoufian H, Pyeritz RH. 2002. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 3:748–758.