Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with scoliosis, congenital dislocation of the hip joint and growth retardation by using next generation sequencing (NGS).@*METHODS@#Peripheral blood samples were obtained from the proband and his parents. Whole genomic DNA was extracted and subjected to NGS. Suspected variant was predicted by bioinformatic tools and validated by Sanger sequencing.@*RESULTS@#The proband was found to carry compound heterozygous variants c.494T>C (p.Met165Thr) and c.848A>G (p.His283Arg) of the CANT1 gene, among which c.494T>C (p.Met165Thr) was inherited from her father and reported to be pathogenic by HGMD. c.848A>G (p.His283Arg) was inherited from her mother and was predicted to be likely pathogenic according to the ACMG 2015 guidelines.@*CONCLUSION@#The compound heterozygous variants of c.494T>C (p.Met165Thr) and c.848A>G (p.His283Arg) of the CANT1 gene probably underlie the disease in the proband.