ArticleThe Journal of clinical endocrinology and metabolism2016
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.
Article in The Journal of clinical endocrinology and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Bartter Syndrome: A Systematic Review of Case Reports and Case Series.Medicina (Kaunas, Lithuania) · 2023Pooled it
- Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma.Journal of cancer research and clinical oncology · 2023Article
- Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Review
- Genetic causes of neonatal and infantile hypercalcaemia.Pediatric nephrology (Berlin, Germany) · 2022Review
- Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.International journal of molecular sciences · 2021Review
- Bartter's syndrome: clinical findings, genetic causes and therapeutic approach.World journal of pediatrics : WJP · 2021Review
- Review
- Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.Urolithiasis · 2019Review
- Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Review
- Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.Human molecular genetics · 2018Article
- TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.American journal of human genetics · 2018Article
- Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.The Journal of clinical endocrinology and metabolism · 2017Review
- CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.The Journal of clinical endocrinology and metabolism · 2017Article
- GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.American journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
contextPrimary hyperparathyroidism with hypercalciuria has not been described in the newborn period.
objectiveOur objectives are to identify the genetic basis for neonatal primary hyperparathyroidism in a family with 2 affected children. SUBJECTS: An African American boy presenting with mild neonatal primary hyperparathyroidism and hypercalciuria was evaluated at The Children's Hospital of Philadelphia. His older brother with neonatal primary hyperparathyroidism had died in infancy of multiple organ failure.
methodsWe collected clinical and biochemical data and performed exome sequencing analysis on DNA from the patient and his unaffected mother after negative genetic testing for known causes of primary hyperparathyroidism.
resultsExome sequencing followed by Sanger sequencing disclosed 2 heterozygous mutations, c.1883C>A, p.(A628D) and c.2786_2787insC, p.(T931fsX10), in the SLC12A1 gene, which was previously implicated in antenatal type 1 Bartter syndrome. Sanger sequencing confirmed the 2 mutations in the proband and his deceased brother; both parents were heterozygous for different mutations and an unaffected sister was homozygous for wild-type alleles.
conclusionsThese results demonstrate a previously unrecognized association between neonatal primary hyperparathyroidism and mutation of SLC12A1, the cause of antenatal Bartter syndrome type 1, and suggest that the loss of sodium-potassium-chloride cotransporter-2 cotransporter activity influences parathyroid gland function.
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