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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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
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author Tamaoka, Satoshi
Suzuki, Erina
Hattori, Atsushi
Ogata, Tsutomu
Fukami, Maki
Katoh-Fukui, Yuko
author_facet Tamaoka, Satoshi
Suzuki, Erina
Hattori, Atsushi
Ogata, Tsutomu
Fukami, Maki
Katoh-Fukui, Yuko
author_sort Tamaoka, Satoshi
collection PubMed
description 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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spelling pubmed-78547072021-02-11 NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism Tamaoka, Satoshi Suzuki, Erina Hattori, Atsushi Ogata, Tsutomu Fukami, Maki Katoh-Fukui, Yuko Hum Genome Var Data Report 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. Nature Publishing Group UK 2021-02-02 /pmc/articles/PMC7854707/ /pubmed/33531459 http://dx.doi.org/10.1038/s41439-021-00137-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Tamaoka, Satoshi
Suzuki, Erina
Hattori, Atsushi
Ogata, Tsutomu
Fukami, Maki
Katoh-Fukui, Yuko
NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism
title NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism
title_full NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism
title_fullStr NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism
title_full_unstemmed NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism
title_short NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism
title_sort ndnf variants are rare in patients with congenital hypogonadotropic hypogonadism
topic Data Report
url 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
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