Next-generation sequencing through multi-gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome

BackgroundCockayne syndrome (CS, OMIM #133540, #216400) is a rare autosomal recessive disease involving multiple systems, typically characterized by microcephaly, premature aging, growth retardation, neurosensory abnormalities, and photosensitivity. The age of onset is related to the severity of the clinical phenotype, which may lead to fatal outcomes. MethodsWe report a 3-year-old girl who presented with photosensitivity, gait abnormalities, stunting, and microcephaly and showed atypical clinical classification due to mild clinical manifestations at an early onset age. ResultsNext-generation sequencing reveals the frameshift mutation (c.394_398del, p.Leu132Asnfs*6) and a novel microdeletion of ERCC8 (exon4del, p.Arg92fs). ConclusionTherefore, it is still necessary to carry out next-generation sequencing for CS patients with atypical clinical manifestations, which is essential for diagnosis and accurate genetic counseling.

Automated summary

We report a case of a 3-year-old girl with photosensitivity, gait abnormalities, growth retardation, and microcephaly. The atypical clinical classification was due to mild symptoms at an early age. Next-generation sequencing identified a frameshift mutation and a novel microdeletion of the ERCC8 gene. Therefore, next-generation sequencing is essential for diagnosing and providing accurate genetic counseling for CS patients with atypical clinical manifestations.