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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 639 - 642 (4page)
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Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family with CdLS carrying a novel pathogenic variant of the SMC1A gene identified by exome sequencing. The proband was a 3-yr-old boy presenting with a developmental delay. He had distinctive facial features without major structural anomalies and tested negative for the NIPBL gene. His younger sister, mother, and maternal grandmother presented with mild mental retardation. By exome sequencing of the proband, a novel SMC1A variant, c.3178G>A, was identified, which was expected to cause an amino acid substitution (p.Glu1060Lys) in the highly conserved coiled-coil domain of the SMC1A protein. Sanger sequencing confirmed that the three female relatives with mental retardation also carry this variant. Our results reveal that SMC1A gene defects are associated with milder phenotypes of CdLS. Furthermore, we showed that exome sequencing could be a useful tool to identify pathogenic variants in patients with CdLS.
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참고문헌 (12)
참고문헌 신청
Ansari M / 2014 / Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism / J Med Genet 51 : 659 ~
Deardorff MA / 2007 / Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation / Am J Hum Ge
Gillis LA / 2004 / NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations / Am J Hum Genet 75 : 610 ~
Hirano T / 2006 / At the heart of the chromosome: SMC proteins in action / Nat Rev Mol Cell Biol 7 : 311 ~ 322
Kline AD / 2007 / Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance / Am J Med Genet A 143A : 1287 ~ 1296
Deardorff MA / 2007 / Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation / Am J Hum Ge
Gillis LA / 2004 / NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations / Am J Hum Genet 75 : 610 ~
Hirano T / 2006 / At the heart of the chromosome: SMC proteins in action / Nat Rev Mol Cell Biol 7 : 311 ~ 322
Kline AD / 2007 / Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance / Am J Med Genet A 143A : 1287 ~ 1296
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