title: AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
abstract: BACKGROUND
  Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by deficiency of alanine glyoxylate aminotransferase, due to a defect in the AGXT gene. Several mutations in this gene have been reported and some of them have been observed in multiple populations. The aim of our study was to analyze the mutations causing PH1 in the Moroccan population and to estimate its prevalence in Morocco.
  
  
  METHODS
  Molecular studies of 29 unrelated Moroccan patients with PH were performed by direct sequencing of all exons of the AGXT gene. In addition, to estimate the prevalence of PH1, we screened for the recurrent p.Ile244Thr mutation in 250 unrelated Moroccan newborns using real-time polymerase chain reaction.
  
  
  RESULTS
  Four pathogenic mutations were detected in 25 unrelated patients. The c.731T>C (p.Ile244Thr) was the most frequent mutation with a frequency of 84%. The other three mutations were c.33delC, c.976delG, and c.331C>T. The prevalence of the PH1 mutation among Moroccans was then estimated to range from 1/7267 to 1/6264.
  
  
  CONCLUSIONS
  PH1 is one of the most prevalent genetic diseases in the Moroccan population and is probably underdiagnosed. Front line genetic testing for PH1 in Morocco should be initiated using an assay for the recurrent p.Ile244Thr mutation. This strategy would provide a useful tool for precocious diagnosis of presymptomatic individuals and to prevent their rapid progression to renal failure.
authors.affiliation: 1 Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Maroc.|2 Département de Génétique Médicale, Institut National d'Hygiène , Rabat, Maroc.
authors.forename: Lamiae
authors.initials: L
authors.lastname: Boualla
authors.affiliation: 2 Département de Génétique Médicale, Institut National d'Hygiène , Rabat, Maroc.|3 Service de Génétique, CHU Mohammed VI , Marrakech, Maroc.
authors.forename: Mariam
authors.initials: M
authors.lastname: Tajir
authors.affiliation: 4 Service Pédiatrie IV, Hôpital d'Enfant , CHU Ibn Sina, Rabat, Maroc.
authors.forename: Najat
authors.initials: N
authors.lastname: Oulahiane
authors.affiliation: 1 Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Maroc.|2 Département de Génétique Médicale, Institut National d'Hygiène , Rabat, Maroc.
authors.forename: Jaber
authors.initials: J
authors.lastname: Lyahyai
authors.affiliation: 2 Département de Génétique Médicale, Institut National d'Hygiène , Rabat, Maroc.
authors.forename: Fatima Zahra
authors.initials: FZ
authors.lastname: Laarabi
authors.affiliation: 1 Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Maroc.|2 Département de Génétique Médicale, Institut National d'Hygiène , Rabat, Maroc.
authors.forename: Siham
authors.initials: S
authors.lastname: Chafai Elalaoui
authors.affiliation: 5 Cabinet of pediatric Nephrology , Casablanca, Maroc.
authors.forename: Kenza
authors.initials: K
authors.lastname: Soulami
authors.affiliation: 4 Service Pédiatrie IV, Hôpital d'Enfant , CHU Ibn Sina, Rabat, Maroc.
authors.forename: Hassan
authors.initials: H
authors.lastname: Ait Ouamar
authors.affiliation: 1 Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Maroc.|2 Département de Génétique Médicale, Institut National d'Hygiène , Rabat, Maroc.
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009018:Morocco / Q000453:epidemiology; D009154:Mutation; D015995:Prevalence; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods; D000637:Transaminases / Q000235:genetics*
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase