Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure

• Main Authors: Braian Lucas A. Sousa, Mirian Yumie Nishi, Mariza Gerdulo Santos, Vinicius Nahime Brito, Sorahia Domenice, Berenice B. Mendonca
• Format: Article
• Language: English
• Published: Faculdade de Medicina / USP
• Series: Clinics
• Subjects: primary amenorrhea; nanos3; gonadal dysgenesis; primary ovarian failure; sexual differentiation
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322016001200695&lng=en&tlng=en

OBJECTIVES: Primary ovarian failure is a rare disorder, and approximately 90% of cases are of unknown etiology. The aim of this study was to search for mutations in NANOS3, a gene that was recently related to the etiology of primary ovarian failure, in a group of Brazilian women. METHODS: We screened for NANOS3 DNA variants in 30 consecutive women who were previously diagnosed with primary ovarian failure, of unknown etiology and compared the results with those from 185 women with normal fertility. The NANOS3 gene was amplified by polymerase chain reaction using pairs of specific primers and then sequenced. The resulting sequences were compared with control sequences available in the National Center for Biotechnology and Information database. RESULTS: No mutations in NANOS3 were found in primary ovarian failure patients, but four previously described polymorphisms were identified at a similar frequency in the control and primary ovarian failure groups. CONCLUSIONS: Mutations in NANOS3 were not associated with primary ovarian failure in the present cohort.