[Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity].

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.