NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism

Although NDNF was recently reported as a novel causative gene for congenital hypogonadotropic hypogonadism (CHH), this conclusion has yet to be validated. In this study, we sequenced NDNF in 61 Japanese CHH patients. No variants, except for nine synonymous substitutions that appear to have no effect...

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Detalles Bibliográficos
Autores principales: Tamaoka, Satoshi, Suzuki, Erina, Hattori, Atsushi, Ogata, Tsutomu, Fukami, Maki, Katoh-Fukui, Yuko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7854707/
https://www.ncbi.nlm.nih.gov/pubmed/33531459
http://dx.doi.org/10.1038/s41439-021-00137-x
Descripción
Sumario:Although NDNF was recently reported as a novel causative gene for congenital hypogonadotropic hypogonadism (CHH), this conclusion has yet to be validated. In this study, we sequenced NDNF in 61 Japanese CHH patients. No variants, except for nine synonymous substitutions that appear to have no effect on splice-site recognition, were identified in NDNF coding exons or flanking intronic sequences. These results indicate the rarity of NDNF variants in CHH patients and highlight the genetic heterogeneity of CHH.

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