| Full text | |
| Author(s): |
Nishi, Mirian Yumie
;
Domenice, Sorahia
;
Maciel-Guerra, Andrea Trevas
;
Zaba Neto, Alberto
;
Cavalaro Pereira da Silva, Marcia Alessandra
;
Frade Costa, Elaine Maria
;
Guerra-Junior, Gil
;
de Mendonca, Berenice Bilharinho
Total Authors: 8
|
| Document type: | Journal article |
| Source: | Arquivos Brasileiros de Endocrinologia e Metabologia; v. 56, n. 8, p. 6-pg., 2012-11-01. |
| Abstract | |
Objective: To screen for mutations in AMH and AMHR2 genes in patients with persistent Mullerian duct syndrome (PMDS). Patients and method: 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. Conclusion: 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. Arq Bras Endocrinol Metab. 2012;56(8):473-8 (AU) | |