title: Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.
abstract: OBJECTIVE
  To screen for mutations in AMH and AMHR2 genes in patients with persistent Müllerian duct syndrome (PMDS).
  
  
  METHODS
  Genomic DNA of eight patients with PMDS was obtained from peripheral blood leukocytes. Directed sequencing of the coding regions and the exon-intron boundaries of AMH and AMHR2 were performed.
  
  
  RESULTS
  The AMH mutations p.Arg95*, p.Arg123Trp, c.556-2A>G, and p.Arg502Leu were identified in five patients; and p.Gly323Ser and p.Arg407* in AMHR2 of two individuals. In silico analyses of the novel c.556-2A>G, p.Arg502Leu and p.Arg407* mutations predicted that they were harmful and were possible causes of the disease.
  
  
  CONCLUSIONS
  A likely molecular etiology was found in the eight evaluated patients with PMDS. Four mutations in AMH and two in AMHR2 were identified. Three of them are novel mutations, c.556-2A>G, and p.Arg502Leu in AMH; and p.Gly323Ser in AMHR2.
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil. minishi@usp.br
authors.forename: Mirian Yumie
authors.initials: MY
authors.lastname: Nishi
authors.forename: Sorahia
authors.initials: S
authors.lastname: Domenice
authors.forename: Andréa Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: Alberto
authors.initials: A
authors.lastname: Zaba Neto
authors.forename: Marcia Alessandra Cavalaro Pereira da
authors.initials: MA
authors.lastname: Silva
authors.forename: Elaine Maria Frade
authors.initials: EM
authors.lastname: Costa
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Junior
authors.forename: Berenice Bilharinho de
authors.initials: BB
authors.lastname: Mendonca
mesh_terms: D000293:Adolescent; D000328:Adult; D054304:Anti-Mullerian Hormone / Q000097:blood / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D058490:Disorder of Sex Development, 46,XY / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction; D018000:Receptors, Peptide / Q000097:blood / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta / Q000097:blood / Q000235:genetics*; D055815:Young Adult
chemical_list: D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; C084621:anti-Mullerian hormone receptor; D054304:Anti-Mullerian Hormone