A novel heterozygous mutation c.680A>G (p. N227S) in SLC34A1 gene leading to autosomal dominant hypophosphatemia: A case report.

Abstract:

RATIONALE:Currently, the relationship between heterozygous mutations in SLC34A1 and hypophosphatemia is controversial. Here we report an autosomal dominant hypophosphatemia pedigree carrying a novel heterozygous mutation in SLC34A1. PATIENT CONCERNS:The proband is a 32-year old young man, presented with progressive pain and weakness in his lower extremities for more than 5 years. The proband showed persistent hypophosphatemia and low TmPO4/GFR values, indicating renal phosphate leak. His grandfather, father, and one of his uncles showed the similar symptoms. DIAGNOSES:Autosomal dominant hypophosphatemia. INTERVENTIONS AND OUTCOMES:Phosphorus supplement was prescribed to the proband and his affected uncle. Both their serum phosphorus levels recovered to normal and their symptoms such as back pain and lower extremity weakness were completely relieved. Whole exome sequencing was performed to identify disease-causing mutations in proband. LESSONS:A novel heterozygous missense mutation c.680A>G (p. N227S) in exon 7 of SLC34A1 was found in proband by whole exome sequencing, which was also found in other 4 family members of this pedigree. Our report of an autosomal dominant hypophosphatemia pedigree with 5 mutant carriers enriches the clinical phenotype caused by the SLC34A1 mutations and further affirms the heterozygous mutations are causative for hypophosphatemia.

journal_name

Medicine (Baltimore)

journal_title

Medicine

authors

Chen X,Xie Y,Wan S,Xu J,Cai B,Zhang Y,Yu X

doi

10.1097/MD.0000000000015617

subject

Has Abstract

pub_date

2019-05-01 00:00:00

pages

e15617

issue

20

eissn

0025-7974

issn

1536-5964

pii

00005792-201905170-00041

journal_volume

98

pub_type

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