Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity.@*METHODS@#High-throughput sequencing and Sanger sequencing were used to analyze potential variant of the B3GALT6 gene.@*RESULTS@#DNA sequencing has identified 2 variants of the B3GALT6 gene in the patient, namely c.694C>T and c.539_540insCCT, which were respectively derived from his father and mother.@*CONCLUSION@#The c.694C>T and c.539_540insCCT variants of the B3GALT6 gene probably underlie the disease in the patient. The result has enabled molecular diagnosis, genetic counseling and prenatal diagnosis for his family.