Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

European Journal of Human Genetics

Volumn 20, Issue 7, 2012, Pages 734-741

  Russo, Silvia ^a   Masciadri, Maura ^a   Gervasini, Cristina ^b   Azzollini, Jacopo ^b   Cereda, Anna ^c   Zampino, Giuseppe ^d   Haas, Oskar ^e   Scarano, Gioacchino ^f   Di Rocco, Maja ^g   Finelli, Palma ^a   Tenconi, Romano ^h   Selicorni, Angelo ^c   Larizza, Lidia ^a,b  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF MILANO BICOCCA   (Italy)

^d EUROPEAN UNIVERSITY OF ROME   (Italy)

^e ST ANNA CHILDREN S HOSPITAL   (Austria)

^f G RUMMO HOSPITAL   (Italy)

^g G GASLINI INSTITUTE   (Italy)

^h UNIVERSITY OF PADOVA   (Italy)

Author keywords

Cornelia de Lange; intragenic deletion duplication; large rearrangements; MLPA; NIPBL; transcript analysis

Indexed keywords

COHESIN; COMPLEMENTARY DNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME XP; CLINICAL FEATURE; DE LANGE SYNDROME; EXON; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NIPBL GENE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 5; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; DE LANGE SYNDROME; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC TESTING; GENOME, HUMAN; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PROTEINS; SENSITIVITY AND SPECIFICITY;

EID: 84863715663     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.7     Document Type: Article

References (25)

1. 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; 6: 631-635. (Pubitemid 38715992)
2. 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: 636-641. (Pubitemid 38715993)
3. Musio A, Selicorni A, Focarelli ML et al: X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006; 38: 528-530.
4. Yan J, Saifi GM, Wierzba TH et al: Mutational and genotype-phenotype correlation analysis in 28 polish patients with Cornelia de Lange syndrome. Am J Med Gen 2006; 140: 1531-1541. (Pubitemid 43993112)
5. Bhuiyan ZA, Klein M, Hammond P et al: Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience. J Med Gen 2006; 43: 568-575. (Pubitemid 44048763)
6. 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.
7. Selicorni A, Russo S, Gervasini C et al: Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 2007; 72: 98-108. (Pubitemid 47262079)
8. Hayashi S, Ono M, Makita Y, Imoto I, Mizutani S, Inazawa J: Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization. Am J Med Genet A 2007; 143A: 1191-1197. (Pubitemid 46870074)
9. Schoumans J, Wincent J, Barbaro M et al: Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Eur J Hum Genet 2007; 15: 143-149. (Pubitemid 46111851)
10. Gervasini C, Pfundt R, Castronovo P et al: Search for genomic imbalances in a cohort of Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes. Clin Genet 2008; 74: 531-538.
11. Vrouwe MG, Elghalbzouri-Maghrani E, Meijers M et al: Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair. Hum Mol Genet 2007; 16: 1478-1487. (Pubitemid 47055119)
12. Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MM, Hennekam RC: Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet 2007; 15: 505-508. (Pubitemid 46487708)
13. Ratajska M, Wierzba J, Pehlivan D et al: Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet 2010; 53: 378-382.
14. Kline AD, Krantz ID, Sommer A et al: Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007; 143A: 1287-1296. (Pubitemid 46870094)
15. Lichter P, Cremer T: Chromosome analysis by non-isotopic in situ hybridization; in: Rooney DE and Czipolkowski BH (eds):: Human Cytogen-A Practical Approach. Oxford: University Press, 1992, pp 157-192.
16. Yan J, Zhang F, Brundage E et al: 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.
17. Taylor MJ, Josifek K: Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5. Am J Med Genet 1981; 9: 5-11. (Pubitemid 11079821)
18. Hulinsky R, Byrne JL, Lowichik A, Viskochil DH: Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome. Am J Med Genet A 2005; 137A: 336-338. (Pubitemid 41262672)
19. Kirschner MA, Arriza JL, Copeland NG et al: The mouse and human excitatory amino acid transporter gene (EAAT1) maps to mouse chromosome 15 and a region of syntenic homology on human chromosome 5. Genomics 1994; 22: 631-633. (Pubitemid 24273992)
20. Jen JC, Wan J, Palos TP, Howard BD, Baloh RW et al: Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 2005; 65: 529-534. (Pubitemid 41170710)
21. de Vries B, Mamsa H, Stam AH et al: Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol 2009; 66: 97-101.
22. Dorsett D, Krantz ID: On the molecular etiology of Cornelia de Lange syndrome. Ann NY Acad Sci 2009; 1151: 22-37.
23. 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 Gene 2004; 75: 610-623. (Pubitemid 39244775)
24. Pié J, Gil-Rodŕguez MC, Ciero M et al: 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: 924-929.
25. Oliveira J, Dias C, Redeker E et al: 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: 1216-1222.