title: HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
abstract: BACKGROUND
  Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. PH3 might be the least severe form with a milder phenotype with good preservation of kidney function in most patients. The aim of this study was to report three PH3 cases carrying mutations in HOGA1.
  
  
  METHODS
  Genetic analysis of HOGA1 was performed in patients with a high clinical suspicion of PH after sequencing of AGXT and GRHPR genes, which was negative. Also, a complete AGXT/GRHPR MLPA was performed in these patients in order to detect large deletions/insertions.
  
  
  CONCLUSIONS
  Two different HOGA1 gene mutations were identified: the p.Pro190Leu in a homozygous state and the p.Gly287Val in two patients in homozygous and heterozygous carriers. The median age at onset of clinical symptoms was 3.93 years. Most of the patients had a positive family history for recurrent urolithiasis. The p.Pro190Leu mutation was reported with impaired renal function at follow-up; however, the p.Gly287Val was presented with normal renal function. All patients were presented with urolithiasis, but only one had a nephrocalcinosis.
  
  
  CONCLUSIONS
  This study expanded the number of PH3 patients from 63 to 66 cases. The p.Pro190Leu and the p.Gly287Val mutations found in this study can provide a first-line investigation in Tunisian PH1 patients.
authors: Biochemistry Department, LR12SP11, Sahloul University Hospital, Sousse, Tunisia.
authors: Saoussen
authors: S
authors: M'dimegh
authors: Laboratory of Inborn Metabolic Diseases, Centre de Biologie Est, Hospices Civils de Lyon, Lyon, Bron Cedex, France.
authors: Cécile
authors: C
authors: Aquaviva-Bourdain
authors: Biochemistry Department, LR12SP11, Sahloul University Hospital, Sousse, Tunisia.
authors: Asma
authors: A
authors: Omezzine
authors: Laboratory of Inborn Metabolic Diseases, Centre de Biologie Est, Hospices Civils de Lyon, Lyon, Bron Cedex, France.
authors: Geneviéve
authors: G
authors: Souche
authors: Biochemistry Department, LR12SP11, Sahloul University Hospital, Sousse, Tunisia.
authors: Ibtihel
authors: I
authors: M'barek
authors: Pediatric Department, Charles Nicolle University Hospital, Tunis, Tunisia.
authors: Kamel
authors: K
authors: Abidi
authors: Pediatric Department, Charles Nicolle University Hospital, Tunis, Tunisia.
authors: Tahar
authors: T
authors: Gargah
authors: Pediatric Department, LR12SP11, Sahloul University Hospital, Sousse, Tunisia.
authors: Saoussen
authors: S
authors: Abroug
authors: Biochemistry Department, LR12SP11, Sahloul University Hospital, Sousse, Tunisia.
authors: Ali
authors: A
authors: Bouslama
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D007652:Oxo-Acid-Lyases / Q000235:genetics*; D014416:Tunisia
chemical_list: D007652:Oxo-Acid-Lyases; C021415:4-hydroxy-2-oxoglutarate aldolase
keywords: 
  PH
  ; 4-hydroxy-2-oxoglutarate aldolase; HOGA1; chronic kidney disease; primary hyperoxaluria type 3