Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Wierzba, Jolanta ^a   Gil Rodríguez, María C ^b   Polucha, Anna ^c   Puisac, Beatriz ^b   Arnedo, María ^b   Teresa Rodrigo, María E ^b   Winnicka, Dorota ^c   Hegardt, Fausto G ^d   Ramos, Feliciano J ^b   Limon, Janusz ^a   Pié, Juan ^b,e  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

^b INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUD   (Spain)

^c Children's University Hospital   (Poland)

^d UNIVERSITY OF BARCELONA   (Spain)

^e UNIVERSITY OF ZARAGOZA   (Spain)

Author keywords

CdLS; Cornelia de Lange syndrome; Monosomy X mosaicism; Mosaic 45,X 46,XX karyotype; NIPBL; TS; Turner syndrome

Indexed keywords

NIPBL PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; CARDIOVASCULAR MALFORMATION; CASE REPORT; CHILD; CYTOGENETICS; DE LANGE SYNDROME; DISEASE SEVERITY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; GENE MUTATION; GLAUCOMA; HIRSUTISM; HUMAN; KARYOTYPE 45,X; KARYOTYPE 46,XX; LYMPHEDEMA; MOUTH MUCOSA; NUCLEOTIDE SEQUENCE; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; PULMONARY VALVE STENOSIS; TURNER SYNDROME; WEBBED NECK;

CHILD; DE LANGE SYNDROME; FEMALE; FRAMESHIFT MUTATION; HUMANS; LYMPHOCYTES; MOSAICISM; MOUTH MUCOSA; PROTEINS; SEVERITY OF ILLNESS INDEX; TURNER SYNDROME;

EID: 84861908583     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-43     Document Type: Article

References (30)

1. Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 1993, 47(7):959-964. 10.1002/ajmg.1320470705, 8291539.
2. 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 2008, 146A(1):51-59. 10.1002/ajmg.a.32016, 18074387.
3. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. 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):485-494. 10.1086/511888, 1821101, 17273969.
4. 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. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004, 36(6):631-635. 10.1038/ng1364, 15146186.
5. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 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):636-641. 10.1038/ng1363, 15146185.
6. Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006, 38(5):528-530. 10.1038/ng1779, 16604071.
7. Liu J, Krantz ID. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet 2009, 76(4):303-314. 10.1111/j.1399-0004.2009.01271.x, 2853897, 19793304.
8. Saenger P, Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino AM, Ranke MB, Rosenfeld R, Silberbach M. Recommendations for the Diagnosis and Management of Turner syndrome. J Clin Endocrinol Metab 2001, 86(7):3061-3069. 10.1210/jc.86.7.3061, 11443168.
9. Ranke MB, Saenger P. Turner's syndrome. Lancet 2001, 358(9278):309-314. 10.1016/S0140-6736(01)05487-3, 11498234.
10. Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group. J Clin Endocrinol Metab 2007, 92(1):10-25.
11. DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID. Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A 2005, 137A(3):276-282. 10.1002/ajmg.a.30857, 16075459.
12. Calo S, Gualandri W, Radice C. XY-XO mosaicism in a case of Cornelia de Lange syndrome. Minerva Pediatr 1968, 20(50):2600-2604.
13. Beck B, Mikkelsen M. Chromosomes in the Cornelia de Lange syndrome. Hum Genet 1981, 59(4):271-276. 10.1007/BF00295457, 7333580.
14. Klosovskiǐ BN, Iankova MF, Fateeva EM, Damanskaia L. On the problem of the De Lange's syndrome. Pediatriia 1968, 47(8):33-39.
15. Hoppman-Chaney N, Jang JS, Jen J, Babovic-Vuksanovic D, Hodge JC. In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange syndrome. Am J Med Genet A 2012, 158A(1):193-198.
16. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007, 143A(12):1287-1296. 10.1002/ajmg.a.31757, 17508425.
17. Oliveira J, Dias C, Redeker E, Costa E, Silva J, Reis Lima M, den Dunnen JT, Santos R. Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. Hum Mutat 2010, 31(11):1216-1222. 10.1002/humu.21352, 20824775.
18. Lloyd IC, Haigh PM, Clayton-Smith J, Clayton P, Price DA, Ridgway AE, Donnai D. Anterior segment dysgenesis in mosaic Turner syndrome. Br J Ophthalmol 1997, 81(8):639-643. 10.1136/bjo.81.8.639, 1722298, 9349149.
19. Nallasamy S, Kherani F, Yaeger D, McCallum J, Kaur M, Devoto M, Jackson LG, Krantz ID, Young TL. Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Arch Ophthalmol 2006, 124(4):552-557. 10.1001/archopht.124.4.552, 16606884.
20. Lee WB, Brandt JD, Mannis MJ, Huang CQ, Rabin GJ. Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings. Cornea 2003, 22(2):178-180. 10.1097/00003226-200303000-00021, 12605058.
21. Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 2004, 151(6):657-687. 10.1530/eje.0.1510657, 15588233.
22. 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. Analysis of Congenital Heart Defects in 87 consecutive patients with Brachmann-de Lange syndrome. Am J Med Genet A 2009, 149A(6):1268-1272. 10.1002/ajmg.a.32838, 19449412.
23. Pie J, Gil-Rodriguez MC, Ciero M, Lopez-Vinas 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. 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 2010, 152A(4):924-929. 10.1002/ajmg.a.33348, 2923429, 20358602.
24. Sybert VP, McCauley E. Turner's syndrome. N Engl J Med 2004, 351(12):1227-1238. 10.1056/NEJMra030360, 15371580.
25. Mannini L, Liu J, Krantz ID, Musio A. Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. Hum Mutat 2010, 31(1):5-10. 10.1002/humu.21129, 2797832, 19842212.
26. Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J. Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet A 2006, 140(14):1531-1541.
27. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 2004, 75(4):610-623. 10.1086/424698, 1182048, 15318302.
28. Barber TD, McManus K, Yuen KW, Reis M, Parmigiani G, Shen D, Barrett I, Nouhi Y, Spencer F, Markowitz S, Velculescu VE, Kinzler KW, Vogelstein B, Lengauer C, Hieter P. Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers. Proc Natl Acad Sci U S A 2008, 105(9):3443-3448. 10.1073/pnas.0712384105, 2265152, 18299561.
29. Barbero JL. Sister chromatid cohesion control and aneuploidy. Cytogenet Genome Res 2011, 133(2-4):223-233.
30. Braunholz D, Hullings M, Gil-Rodriguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. Eur J Hum Genet 2012, 20(3):271-276. 10.1038/ejhg.2011.175, 21934712.