https://www.selleckchem.com/products/erastin2.html Conclusion The patient's condition may be attributed to the novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene.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.Objective To explore the molecular basis for a Chinese pedigree affected with hereditary coagulation factor VII (FVII) deficiency. Methods The coding regions of F7 gene were amplified by PCR and sequenced. Suspected variants were confirmed by reverse sequencing and validated in other members from the pedigree. Pathogenicity of the variants was analyzed with multiple bioinformatic tools. Results Genetic analysis revealed that the proband has carried compound heterozygous c.985T>C (p.Ser329Pro) and c.1091G>A (p.Arg364Gln) variants in exon 8 of the F7 gene. Her mother, brother and son were heterozygous for c.985T>C (p.Ser329Pro), while her father was heterozygous for c.1091G>A (p.Arg364Gln). Phylogenetic analysis suggested that both p.Ser329 and p.Arg364 are highly