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Journal of genetic medicine   v.15 no.1, 2018년, pp.24 - 27   KCI
본 등재정보는 저널의 등재정보를 참고하여 보여주는 베타서비스로 정확한 논문의 등재여부는 등재기관에 확인하시기 바랍니다.

A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

Hong, Sungwon   (Department of Pediatrics, Nowon Eulji Medical Center, Eulji University  ); Lee, Cha Gon   (Department of Pediatrics, Nowon Eulji Medical Center, Eulji University  );
  • 초록

    Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.


  • 주제어

    SMC1A  . De Lange syndrome  . X-Linked genes  . High-throughput nucleotide sequencing  .

  • 참고문헌 (12)

    1. Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, 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;51:659-68. 
    2. Boyle MI, Jespersgaard C, Brondum-Nielsen K, Bisgaard AM, Tumer Z. Cornelia de Lange syndrome. Clin Genet 2015;88:1-12. 
    3. Liu J, Krantz ID. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet 2009;76:303-14. 
    4. Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat 2007;28:205-6. 
    5. Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, et al. Phenotypes and genotypes in individuals with SMC1A variants. Am J Med Genet A 2017;173:2108-25. 
    6. Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006;38:528-30. 
    7. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, 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;80:485-94. 
    8. Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 2013;34:1589-96. 
    9. Jang MA, Lee CW, Kim JK, Ki CS. Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. Ann Lab Med 2015;35:639-42. 
    10. Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, et al. SMC1A expression and mechanism of pathogenicity in probands with X-linked Cornelia de Lange syndrome. Hum Mutat 2009;30:1535-42. 
    11. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24. 
    12. Gervasini C, Russo S, Cereda A, Parenti I, Masciadri M, Azzollini J, 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:2909-19. 

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