A case of Cockayne syndrome with two novel mutations in the ERCC6 gene: Expanding the phenotypic and genetic spectrum

Abstract

A one-year-old East Asian boy presented with significant growth and developmental delays, including microcephaly, poor motor development, and feeding difficulties. He also exhibited poor visual and auditory tracking, along with occasional vomiting and skin vulnerability to sun exposure. Cranial CT revealed cortical dysplasia and a septum pellucidum cyst. Whole exome sequencing identified three heterozygous mutations in the ERCC6(Excision repair cross-complementation group 6) gene: two novel mutations (c.1557G > A and c.1821 + 1del) inherited from the father and mother, respectively, and a third mutation (c.1820 A > T) with uncertain pathogenicity, also inherited from the mother. The genetic findings led to a diagnosis of Cockayne syndrome, contributing to the expanding knowledge of the ERCC6 gene mutation spectrum and aiding in the clinical diagnosis and genetic counseling for the family. This case underscores the importance of accurate genetic diagnosis in managing prognosis and providing counseling for high-risk families.