{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mura-Escorche G"],"funding":["Instituto de Salud Carlos III"],"pagination":["8541"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12428849"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(17)"],"pubmed_abstract":["Renal phosphate transporters NaPi-IIa (<i>SLC34A1</i>) and NaPi-IIc (<i>SLC34A3</i>) play a crucial role in phosphate reabsorption in the proximal tubule. Biallelic loss-of-function variants in <i>SLC34A1</i> and <i>SLC34A3</i> cause two rare phosphate-wasting tubulopathies: idiopathic infantile hypercalcemia (IIH) and hereditary hypophosphatemic rickets with hypercalciuria, respectively. The phenotypes associated with these diseases are highly variable and sometimes overlap. Here, we report a rare case of a six-month-old girl of consanguineous parents with symptoms related to these diseases, including failure to thrive, nephrocalcinosis, hypercalcemia, hypophosphatemia with low TRP, elevated levels of 1,25-(OH)<sub>2</sub>D<sub>3</sub>, and suppressed PTH. An exome sequencing analysis was"],"journal":["International journal of molecular sciences"],"pubmed_title":["Identification of a Novel Homozygous &lt;i&gt;SLC34A1&lt;/i&gt; Missense Mutation and a Heterozygous &lt;i&gt;SLC34A3&lt;/i&gt; Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia."],"pmcid":["PMC12428849"],"funding_grant_id":["PI23/01609"],"pubmed_authors":["Mura-Escorche G","Lebredo-Alvarez I","Ramos-Trujillo E","Claverie-Martin F","Garcia-Suarez LC"],"additional_accession":[]},"is_claimable":false,"name":"Identification of a Novel Homozygous &lt;i&gt;SLC34A1&lt;/i&gt; Missense Mutation and a Heterozygous &lt;i&gt;SLC34A3&lt;/i&gt; Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.","description":"Renal phosphate transporters NaPi-IIa (<i>SLC34A1</i>) and NaPi-IIc (<i>SLC34A3</i>) play a crucial role in phosphate reabsorption in the proximal tubule. Biallelic loss-of-function variants in <i>SLC34A1</i> and <i>SLC34A3</i> cause two rare phosphate-wasting tubulopathies: idiopathic infantile hypercalcemia (IIH) and hereditary hypophosphatemic rickets with hypercalciuria, respectively. The phenotypes associated with these diseases are highly variable and sometimes overlap. Here, we report a rare case of a six-month-old girl of consanguineous parents with symptoms related to these diseases, including failure to thrive, nephrocalcinosis, hypercalcemia, hypophosphatemia with low TRP, elevated levels of 1,25-(OH)<sub>2</sub>D<sub>3</sub>, and suppressed PTH. An exome sequencing analysis was","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-04-08T19:15:50.275Z","creation":"2026-04-08T12:09:29.646Z"},"accession":"S-EPMC12428849","cross_references":{"pubmed":["40943461"],"doi":["10.3390/ijms26178541"]}}