A novel missense variant in the SMC1A gene causing Cornelia de Lange syndrome in a Chinese neonate.

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.