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

• Published in: Molecular genetics & genomic medicine Vol. 11; no. 11; p. e2254
• Main Authors: Wang, Xinyi, Li, Yue, Zhao, Anqi, Wang, Yumeng, Cao, Qiaoyu, Pan, Chaolan, Li, Ming
• Format: Journal Article
• Language: English
• Published: Bognor Regis John Wiley & Sons, Inc 01.11.2023; Wiley
• Subjects: Abnormalities; Age; Aging; Amino acids; Cockayne syndrome; Diagnosis; Disease; DNA polymerase; ERCC8; Erythema; Frameshift mutation; Gait; Gene sequencing; Genes; Genetic counseling; Genetic screening; Genotype & phenotype; Growth rate; Intelligence tests; Magnetic resonance imaging; Microcephaly; microdeletion; Microencephaly; Mutation; Next-generation sequencing; Phenotypes; Photosensitivity; premature aging; Proteins; Software
• ISSN: 2324-9269; 2324-9269
• DOI: 10.1002/mgg3.2254

Abstract Background Cockayne 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. Methods We 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. Results Next‐generation sequencing reveals the frameshift mutation (c.394_398del, p.Leu132Asnfs*6) and a novel microdeletion of ERCC8 (exon4del, p.Arg92fs). Conclusion Therefore, 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.