ArticlePediatric nephrology (Berlin, Germany)2011
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome EncompassingJournal of clinical medicine · 2025Article
- FamilialGenes · 2025Article
- Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous GenesJournal of clinical research in pediatric endocrinology · 2025Article
- The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.Scientific reports · 2022Article
- Mechanisms of phosphate transport.Nature reviews. Nephrology · 2019Review
- Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.Pediatric nephrology (Berlin, Germany) · 2019Review
- Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations.Pflugers Archiv : European journal of physiology · 2019Review
- Expression and function of Slc34 sodium-phosphate co-transporters in skeleton and teeth.Pflugers Archiv : European journal of physiology · 2019Review
- Unexplained Pancytopenia in a Patient with 5q35.2-q35.3 Microduplication EncompassingInternational journal of hematology-oncology and stem cell research · 2018Article
- DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.Physiological reviews · 2017Review
- Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.Pediatric nephrology (Berlin, Germany) · 2016Article
- Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.Journal of the American Society of Nephrology : JASN · 2016Article
- Calcium homeostasis disorder during and after neonatal extracorporeal membrane oxygenation.Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine · 2015Article
- Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions.The Journal of clinical endocrinology and metabolism · 2014Article
- Structural fold and binding sites of the human Na⁺-phosphate cotransporter NaPi-II.Biophysical journal · 2014Article
- Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.Molecular syndromology · 2013Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sotos syndrome is characterized by overgrowth, a typical facial appearance, and learning difficulties. It is caused by heterozygous mutations, including deletions, of NSD1 located at chromosome 5q35. Here we report two unrelated cases of Sotos syndrome associated with nephrocalcinosis. One patient also had idiopathic infantile hypercalcemia. Genetic investigations revealed heterozygous deletions at 5q35 in both patients, encompassing NSD1 and SLC34A1 (NaPi2a). Mutations in SLC34A1 have previously been associated with hypercalciuria/nephrolithiasis. Our cases suggest a contiguous gene deletion syndrome including NSD1 and SLC34A1 and provide a potential genetic basis for idiopathic infantile hypercalcemia.
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