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
Medicineauthors
Chen X,Xie Y,Wan S,Xu J,Cai B,Zhang Y,Yu Xdoi
10.1097/MD.0000000000015617subject
Has Abstractpub_date
2019-05-01 00:00:00pages
e15617issue
20eissn
0025-7974issn
1536-5964pii
00005792-201905170-00041journal_volume
98pub_type
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