Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

European Journal of Medical Genetics

Volumn 53, Issue 6, 2010, Pages 378-382

  Ratajska, Magdalena ^a   Wierzba, Jolanta ^a   Pehlivan, Davut ^b   Xia, Zhilian ^b   Brundage, Ellen K ^b   Cheung, Sau Wai ^b   Stankiewicz, Pawel ^b   Lupski, James R ^b,c   Limon, Janusz ^a  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

ACGH; Cornelia de Lange Syndrome; MLPA; NIPBL

Indexed keywords

COHESIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DE LANGE SYNDROME; DEVELOPMENTAL DISORDER; DNA SEQUENCE; EXON; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENE REARRANGEMENT; GROWTH RETARDATION; HUMAN; LIMB MALFORMATION; MALE; MULTIPLE ORGAN FAILURE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NIPBL GENE; POINT MUTATION; POLYMERASE CHAIN REACTION; SMC 1A GENE; SMC 3 GENE;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; GENE REARRANGEMENT; HUMANS; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHENOTYPE; PROTEINS; YOUNG ADULT;

EID: 78349310111     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.08.002     Document Type: Article

References (18)

1. Allanson J.E., Hennekam R.C., Ireland M. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. J. Med. Genet. 1997, 34:645-650.
2. Bhuiyan Z.A., Steward H., Redeker E.J., Mannens M.M., Hennekam R.C. Large genomic rearrangments in NIPBL are infrequent in Cornelia de Lange Syndrome. Eur. J. Hum. Genet. 2007, 15:505-508.
3. Borck G., Zarhrate M., Cluzeau C., Bal E., Bonnefont J.P., Munnich A., Cormier-Daire V., Colleaux L. Father-to-dauther transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of NIPBL gene. Hum. Mutat. 2006, 27:731-735.
4. Castronovo P., Delahaye-Duriez A., Gervasini C., Azzollini J., Minier F., Russo S., Masciadri M., Selicorni A., Verloes A., Larizza L. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wild clinical expressivity?. Clin. Genet. 2010, 23.
5. Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodríguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predomonant mental retardation. Am. J. Hum. Genet. 2007, 80:485-494.
6. De Lange C. Sur un type nouveau de degeneration (typus Amstelodamensis). Arch. Med. Enfants 1933, 36:713-719.
7. Dorsett D., Krantz I.D. On the molecular etiology of Cornelia de Lange syndrome. Ann. N. Y. Acad. Sci. 2009, 1151:22-37.
8. Gillis L.A., McCallum J., Kaur M., DeScipio C., Yaeger D., Mariani A., Kline A.D., Li H.H., Devoto M., Jackson L.G., Krantz U.D. 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.
9. Kaur M., DeScipio C., McCallum J., Yaeger D., Devoto M., Jackson L.G., Spinner N.B., Krantz I.D. Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am. J. Med. Genet. 2005, 138:27-31.
10. Kline A.D., Stanley C., Belevich J., Brodsky K., Barr M., Jackson L.G. Developmental data of individuals with the Brachmannn- de Lange Syndrome. Am. J. Med. Genet. 1993, 47:1053-1058.
11. Kline A.D., Krantz I.D., Sommer A., Kliewer M., Jackson L.G., FitzPatrick D.R., Levin A.V., Selicorni A. Cornelia de Lange syndrome: clinical review, diagnostic and scoring system and anticipatory guidance. Am. J. Med. Genet. 2007, 143:1287-1296.
12. Krantz I.D., McCallum J., DeScipio C., Kaur M., Gillis L.A., Yaeger D., Jukofsky L., Wasserman N., Bottani A., Morris C.A., Nowaczyk M.J., Toriello H., Bamshad M.J., Carey J.C., Rappaport E., Kawauchi S., Lander A.D., Calof A.L., Li H.H., Devoto M., Jackson L.G. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat. Genet. 2004, 36:631-635.
13. Musio A., Selicorni A., Focarelli M.L., Gervasini C., Milani D., Russo S., Vezzoni P., Larizza L. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat. Genet. 2006, 38:528-530.
14. Selicorni A., Russo S., Gervasini C., Castronovo P., Milani D., Cavalleri F., Bentivegna A., Masciardi M., Domi A., Divizia M.T., Sforzini C., Terantino E., Memo L., Scarano G., Larizza L. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with presence and type of NIPBL mutation. Clin. Genet. 2007, 72:98-108.
15. Tonkin E.T., Wang T.J., Lisgo S., Bamshad M.J., 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, 36:636-641.
16. Van Allen M.I., Filippi G., Siegel-Bartelt J., Yong S.L., McGillivray B., Zuker R.M., Smith C.R., Magee J.F., Ritchie S., Toi A. Clinical variability within Brachmann-de Lange syndrome: a proposed classsification system. Am. J. Med. Genet. 1993, 47:947-958.
17. Yan J., Saifi G.M., Wierzba T.H., Withers M., Bien-Willner G.A., Limon J., Stankiewicz P., Lupski J.R., Wierzba J. Mutational and genotype-phenotype correlation analysis in 28 Polish patients with Cornelia de Lange syndrome. Am. J. Med. Genet. 2006, 140:1531-1541.
18. Yan J., Zhang F., Brundage E., Scheuerle A., Lanpher B., Erickson R.P., Powis Z., Robinson H.B., Trapane P.L., Stachiw-Hietpas D., Keppler-Noreuil K.M., Lalani S.R., Sahoo T., Chinault A.C., Patel A., Cheung S.W., Lupski J.R. 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. 2009, 46:626-634.