title: The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.
abstract: OBJECTIVE
  To establish the frequency of the c.301_302 delAG mutation of the PROP1 gene in Romanian patients with multiple pituitary hormone deficiency (MPHD).
  
  
  METHODS
  Somatic assessment, hormonal test, bone age, magnetic resonance imaging of the pituitary gland, and molecular diagnosis were performed in 26 patients with MPHD (7 patients with familial form of MPHD and 19 patients with sporadic form of MPHD).
  
  
  RESULTS
  The c.301_302delAG mutation was detected in the homozygous state in 10 patients belonging to 5 unrelated families (7 patients with familial history of MPHD and 3 patients with sporadic form of MPHD). Those 10 patients presented variable pituitary hormone deficiency and pituitary morphology.
  
  
  CONCLUSIONS
  The c.301_302delAG homozygous genotype had a high frequency of 38% (10/26), reaching 100% (7/7) in group with familial cases of MPHD and 16% (3/19) in group with sporadic forms of MPHD.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Lazea
authors.forename: Paula
authors.initials: P
authors.lastname: Grigorescu-Sido
authors.forename: Radu
authors.initials: R
authors.lastname: Popp
authors.forename: Marie
authors.initials: M
authors.lastname: Legendre
authors.forename: Serge
authors.initials: S
authors.lastname: Amselem
authors.forename: Camelia
authors.initials: C
authors.lastname: Al-Khzouz
authors.forename: Simona
authors.initials: S
authors.lastname: Bucerzan
authors.forename: Victoria
authors.initials: V
authors.lastname: Creţ
authors.forename: Mirela
authors.initials: M
authors.lastname: Crişan
authors.forename: Cristian
authors.initials: C
authors.lastname: Brad
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D012383:Romania
chemical_list: D018398:Homeodomain Proteins; C102134:Prophet of Pit-1 protein