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Background  Kyphoscoliotic Ehlers–Danlos syndrome (kEDS; OMIM225400) is a rare autosomal recessive genetic disease caused by variants in the  PLOD1  gene. This research was conducted to verify the disease-causing gene in a Chinese neonatal family with the EDS.    Methods  We recruited a Han Chinese neonate with  PLOD1 -related kEDS without kyphoscoliosis. Detailed clinical examination and laboratory tests were performed and whole exome sequencing (WES) was used to detect the pathogenic genes of the proband.  In vivo  experiments (reverse-transcription PCR, quantitative real-time PCR) and  in vitro  experiments (minigene analysis) were used to verify the function of variants suspected of affecting the splicing process. The effect of the splice site variant on the  PLOD1  transcript was analyzed using splice prediction programs NetGene2 and Alternative Splice Site Predictor (ASSP).    Results  A homozygous synonymous variant c.1095C&amp;gt;T (p.Gly365, rs1032781250) in the  PLOD1  gene was found and verified in the family with kEDS. This splicing variant resulted in a premature termination codon of exon 10 and affected the expression of the four bases GCGC.    Conclusion  Our research showed that the homozygous synonymous variant in  PLOD1  was the pathogenic cause in the proband. The combined application of WES and functional studies verified the effect of uncertain gene variants on splicing, upgrading pathogenicity evidence, and determining the cause of disease. This is helpful for the early diagnosis and treatment of kEDS.

frontiers in pediatrics

Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers–Danlos Syndrome