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Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family

Vickie Braithwaite1, John M Pettifor, Ann Prentice

  • 1MRC Human Nutrition Research, Elsie Widdowson Laboratory, Cambridge, UK. vickie.braithwaite@mrc-hnr.cam.ac.uk

Bone
|December 19, 2012
PubMed

Insights

This study identified a novel mutation in the SLC34A3 gene causing hereditary hypophosphataemic rickets with hypercalciuria (HHRH) in Gambian siblings. This research marks the first reported cases of HHRH in Africa, highlighting a new genetic cause for the condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Biochemistry

Background:

  • Hereditary rickets, specifically hereditary hypophosphataemic rickets with hypercalciuria (HHRH), is a rare genetic disorder affecting phosphate and calcium metabolism.
  • Early diagnosis and genetic understanding are crucial for managing bone deformities and metabolic disturbances in affected children.

Observation:

  • Three siblings in a Gambian family presented with bone deformities and biochemical evidence of HHRH, including normal vitamin D levels but abnormal phosphate and calcium excretion.
  • Elevated fibroblast growth factor-23 (FGF23) levels were observed in two affected siblings.
  • Genetic analysis revealed a novel homozygous mutation (S168F) in the SLC34A3 gene in affected siblings, while unaffected family members were carriers.

Findings:

  • The novel S168F mutation in the SLC34A3 gene is strongly associated with HHRH in this family.
  • In silico analysis predicted the S168F mutation to be damaging to the sodium-phosphate cotransporter function.
  • This study establishes the first documented cases of HHRH in Africa.

Implications:

  • This discovery expands the known genetic spectrum of HHRH and identifies a novel mutation.
  • The findings underscore the importance of genetic testing for diagnosing rare metabolic bone diseases in diverse populations.
  • This research provides a foundation for further investigation into HHRH in African populations and potential therapeutic targets.

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