A novel missense variant in the SMC1A gene causing Cornelia de Lange syndrome in a Chinese neonate
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Updated: Mar 31, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
1Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou, Zhejiang, China.
Background:
Exome sequencing (ES) can improve the diagnostic yield of neonates with multisystem anomalies, but interpreting its results in the clinical setting remains challenging.
Case Report:
A neonate showing multiple abnormalities and his parents underwent trio-based ES. Sanger sequencing was applied to validate the variant. A novel hemizygous missense variant c.103G > A (p.Gly35Ser) was identified in exon 1 of the SMC1A gene in the neonate, but was not detected in his parents. The neonate was diagnosed with Cornelia de Lange syndrome.
Conclusion:
This study identified the novel hemizygous missense variant c.103G > A (p.Gly35Ser) in SMC1A as the likely molecular etiology of the neonate's multisystem abnormalities. We broadened the variant spectrum of the SMC1A gene and expanded the understanding of genotype-phenotype relationship of this gene.
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