RGD Reference Report - A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. - Rat Genome Database

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A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.

Authors: Magen, D  Berger, L  Coady, MJ  Ilivitzki, A  Militianu, D  Tieder, M  Selig, S  Lapointe, JY  Zelikovic, I  Skorecki, K 
Citation: Magen D, etal., N Engl J Med. 2010 Mar 25;362(12):1102-9. doi: 10.1056/NEJMoa0905647.
RGD ID: 7242923
Pubmed: PMID:20335586   (View Abstract at PubMed)
DOI: DOI:10.1056/NEJMoa0905647   (Journal Full-text)

We describe two siblings from a consanguineous family with autosomal recessive Fanconi's syndrome and hypophosphatemic rickets. Genetic analysis revealed a homozygous in-frame duplication of 21 bp in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, as the causative mutation. Functional studies in Xenopus laevis oocytes and in opossum kidney cells indicated complete loss of function of the mutant NaPi-IIa, resulting from failure of the transporter to reach the plasma membrane. These findings show that disruption of the human NaPi-IIa profoundly impairs overall renal phosphate reabsorption and proximal-tubule function and provide evidence of the critical role of NaPi-IIa in human renal phosphate handling.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SLC34A1HumanFanconi syndrome  IAGP DNA:duplication:exon:g.2061_2081dup (human)RGD 
Slc34a1RatFanconi syndrome  ISOSLC34A1 (Homo sapiens)DNA:duplication:exon:g.2061_2081dup (human)RGD 
Slc34a1MouseFanconi syndrome  ISOSLC34A1 (Homo sapiens)DNA:duplication:exon:g.2061_2081dup (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SLC34A1HumanBone pain  IAGP DNA:duplication:exon:g.2061_2081dupRGD 
SLC34A1HumanGenu varum  IAGP DNA:duplication:exon:g.2061_2081dupRGD 
SLC34A1HumanMuscle weakness  IAGP DNA:duplication:exon:g.2061_2081dupRGD 
SLC34A1HumanOsteopenia  IAGP DNA:duplication:exon:g.2061_2081dupRGD 
SLC34A1HumanRickets  IAGP DNA:duplication:exon:g.2061_2081dupRGD 
Objects Annotated

Genes (Rattus norvegicus)
Slc34a1  (solute carrier family 34 member 1)

Genes (Mus musculus)
Slc34a1  (solute carrier family 34 (sodium phosphate), member 1)

Genes (Homo sapiens)
SLC34A1  (solute carrier family 34 member 1)


Additional Information