Análisis del rendimiento de la secuenciación del exoma clínico en hipogonadismo hipogonadotropo congénito teniendo en cuenta el grado de alteración del olfato

Nelmar Valentina Ortiz-Cabrera, Teresa Gavela-Pérez, Francisco Javier Mejorado-Molano, Jessica Mire Santillán-Coello, José Miguel Villacampa-Aubá, María José Trujillo-Tiebas, Leandro Soriano-Guillén
2021 Anales de Pediatría  
Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patterns of inheritance, and the increasing availability of next generation sequencing (NGS) has increased the diagnostic yield. We analysed the diagnostic yield of NGS in patients with CHH using the clinical exome filtered with virtual panels. We also assessed
more » ... lso assessed whether designing panels based on the presence/absence of microsmia increased the diagnostic yield. The use of a 34-gene virtual panel confirmed the diagnosis of CHH in 5 out of 9 patients (55%). In 2 out of 9 (22%), the findings were inconclusive. Applying the presence/absence of microsmia criterion to choose genes for analysis did not improve the diagnostic yield. The approach to the genetic study of patients with CHH varies depending on the resources of each healthcare facility, so the sensitivity of testing may vary substantially depending on whether panels, clinical exome sequencing or whole exome sequencing (WES) are used. The analysis of every genes related to CHH regardless of the presence/absence of microsmia seems to be the best approach.
doi:10.1016/j.anpedi.2021.01.020 pmid:34120870 fatcat:7raauqlwsvhnzjtwcok4uptbva