Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing

Annals of Laboratory Medicine

Volumn 35, Issue 6, 2015, Pages 639-642

  Jang, Mi Ae ^a   Lee, Chang Woo ^b   Kim, Jin Kyung ^c   Ki, Chang Seok ^b  

^a Korea University College of Medicine   (South Korea)

^b Samsung Medical Center   (South Korea)

^c Catholic University of Daegu   (South Korea)

Author keywords

Cornelia de Lange Syndrome; Exome sequencing; Mutation; SMC1A

Indexed keywords

CELL CYCLE PROTEIN; DNA; NIPBL PROTEIN, HUMAN; NONHISTONE PROTEIN; PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1;

ASIAN CONTINENTAL ANCESTRY GROUP; CASE REPORT; DE LANGE SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH KOREA;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CELL CYCLE PROTEINS; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; REPUBLIC OF KOREA;

EID: 84942251880     PISSN: 22343806     EISSN: 22343814     Source Type: Journal    
DOI: 10.3343/alm.2015.35.6.639     Document Type: Article

References (12)

1. Liu J and Krantz ID. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet 2009;76:303-14.
2. Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 2007;145C:248-60.
3. 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.
4. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, et al. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007;143A: 1287-96.
5. 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.
6. 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.
7. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 2004;75:610-23.
8. Park KH, Lee ST, Ki CS, Byun SY. Cornelia de Lange Syndrome with NIPBL gene mutation: a case report. J Korean Med Sci 2010;25:1821-3.
9. Park HD, Ki CS, Kim JW, Kim WT, Kim JK. Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. Ann Clin Lab Sci 2010;40:20-5.
10. 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.
11. Hirano T. At the heart of the chromosome: SMC proteins in action. Nat Rev Mol Cell Biol 2006;7:311-22.
12. 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.