[Clinical feature and variant analysis of a case with hereditary hypophosphatemic rickets with hypercalciuria].

OBJECTIVE

To explore the clinical features and genetic basis for a patient with hereditary hypophosphatemic rickets with hypercalciuria(HHRH).

METHODS

Clinical data of the patient was collected. The patient was subjected to whole exome capture and next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing.

RESULTS

The patient presented with hypophosphatemic rickets, short stature, hypercalciuria, and renal stones. NGS showed that he has carried compound heterozygous variants of the SLC34A3 gene, namely c.532_533delCA(p.Q178Vfs*6) and c.894_925+69del(splicing). His parents were asymptomatic heterozygous carriers of one of the variants. Based on ACMG guidelines, both variants were classified as pathogenic.

CONCLUSION

The compound heterozygous variants c.532_533delCA (p.Q178Vfs*6) and c.894_925+69del(splicing) of the SLC34A3 gene probably underlie the disease in this child. Above finding has enriched the variant spectrum for HHRH. Based on the results, prenatal diagnosis may be provided for the family.