Clinical biochemistry · 2026
A novel missense variant in the SMC1A gene causing Cornelia de Lange syndrome in a Chinese neonate.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Yang Yang, Wen Zhang
Аннотация
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.
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.