A novel KAL1 mutation is associated with combined pituitary hormone deficiency

Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations...

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Autores principales: Takagi, Masaki, Narumi, Satoshi, Hamada, Riku, Hasegawa, Yukihiro, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785554/
https://www.ncbi.nlm.nih.gov/pubmed/27081504
http://dx.doi.org/10.1038/hgv.2014.11
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author Takagi, Masaki
Narumi, Satoshi
Hamada, Riku
Hasegawa, Yukihiro
Hasegawa, Tomonobu
author_facet Takagi, Masaki
Narumi, Satoshi
Hamada, Riku
Hasegawa, Yukihiro
Hasegawa, Tomonobu
author_sort Takagi, Masaki
collection PubMed
description Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to luteinizing hormone, and follicle-stimulating hormone deficiencies, and improve our understanding of the phenotypic features and developmental course associated with KAL1 mutations.
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spelling pubmed-47855542016-04-14 A novel KAL1 mutation is associated with combined pituitary hormone deficiency Takagi, Masaki Narumi, Satoshi Hamada, Riku Hasegawa, Yukihiro Hasegawa, Tomonobu Hum Genome Var Data Report Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to luteinizing hormone, and follicle-stimulating hormone deficiencies, and improve our understanding of the phenotypic features and developmental course associated with KAL1 mutations. Nature Publishing Group 2014-09-25 /pmc/articles/PMC4785554/ /pubmed/27081504 http://dx.doi.org/10.1038/hgv.2014.11 Text en Copyright © 2014 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/
spellingShingle Data Report
Takagi, Masaki
Narumi, Satoshi
Hamada, Riku
Hasegawa, Yukihiro
Hasegawa, Tomonobu
A novel KAL1 mutation is associated with combined pituitary hormone deficiency
title A novel KAL1 mutation is associated with combined pituitary hormone deficiency
title_full A novel KAL1 mutation is associated with combined pituitary hormone deficiency
title_fullStr A novel KAL1 mutation is associated with combined pituitary hormone deficiency
title_full_unstemmed A novel KAL1 mutation is associated with combined pituitary hormone deficiency
title_short A novel KAL1 mutation is associated with combined pituitary hormone deficiency
title_sort novel kal1 mutation is associated with combined pituitary hormone deficiency
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785554/
https://www.ncbi.nlm.nih.gov/pubmed/27081504
http://dx.doi.org/10.1038/hgv.2014.11
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