Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders
- Vishnopolska, Sebastián Alexis
- Mercogliano, María Florencia
- Camilletti, María Andrea
- Mortensen, Amanda Helen
- Braslavsky, Debora Giselle
- Keselman, Ana Claudia
- Bergadá, Ignacio
- Olivieri, Federico Alberto
- Miranda, Lucas
- Marino, Roxana Marcela
- Ramírez, Pablo
- Pérez Garrido, Nora
- Patiño Mejia, Helena
- Ciaccio, Marta Graciela Cristina
- Di Palma, María Isabel
- Belgorosky, Alicia
- Marti, Marcelo Adrian
- Kitzman, Jacob Otto
- Camper, Sally Ann
- Pérez Millán, María Inés
DOIAbstract
Purpose: Congenital hypopituitarism (CH) can present in isolation or with other birth defects. Mutations in multiple genes can cause CH, and the use of a genetic screening panel could establish the prevalence of mutations in known and candidate genes for this disorder. It could also increase the proportion of patients that receive a genetic diagnosis. Methods: We conducted target panel genetic screening using single-molecule molecular inversion probes sequencing to assess the frequency of mutations in known hypopituitarism genes and new candidates in Argentina. We captured genomic deoxyribonucleic acid from 170 pediatric patients with CH, either alone or with other abnormalities. We performed promoter activation assays to test the functiona...
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