An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant

Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who was diagnosed with PHA1A due to hyponatremia, hype...

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Autores principales: Noda, Saki, Aoyama, Kohei, Kondo, Yuto, Okamura, Jun, Suzuki, Atsushi, Yamaguchi, Naoya, Yoshida, Aya, Miyake, Yoshishige
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/PMC8602301/
https://www.ncbi.nlm.nih.gov/pubmed/34795218
http://dx.doi.org/10.1038/s41439-021-00173-7
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author Noda, Saki
Aoyama, Kohei
Kondo, Yuto
Okamura, Jun
Suzuki, Atsushi
Yamaguchi, Naoya
Yoshida, Aya
Miyake, Yoshishige
author_facet Noda, Saki
Aoyama, Kohei
Kondo, Yuto
Okamura, Jun
Suzuki, Atsushi
Yamaguchi, Naoya
Yoshida, Aya
Miyake, Yoshishige
author_sort Noda, Saki
collection PubMed
description Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who was diagnosed with PHA1A due to hyponatremia, hyperkalemia, and poor weight gain in the neonatal period. She carried a novel heterozygous mutation (NM_000901.5: c.1757 + 1 G > C) in the splice donor site of IVS-2 in NR3C2.
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spelling pubmed-86023012021-11-19 An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant Noda, Saki Aoyama, Kohei Kondo, Yuto Okamura, Jun Suzuki, Atsushi Yamaguchi, Naoya Yoshida, Aya Miyake, Yoshishige Hum Genome Var Data Report Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who was diagnosed with PHA1A due to hyponatremia, hyperkalemia, and poor weight gain in the neonatal period. She carried a novel heterozygous mutation (NM_000901.5: c.1757 + 1 G > C) in the splice donor site of IVS-2 in NR3C2. Nature Publishing Group UK 2021-11-18 /pmc/articles/PMC8602301/ /pubmed/34795218 http://dx.doi.org/10.1038/s41439-021-00173-7 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
Noda, Saki
Aoyama, Kohei
Kondo, Yuto
Okamura, Jun
Suzuki, Atsushi
Yamaguchi, Naoya
Yoshida, Aya
Miyake, Yoshishige
An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant
title An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant
title_full An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant
title_fullStr An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant
title_full_unstemmed An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant
title_short An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant
title_sort infant case of pseudohypoaldosteronism type1a caused by a novel nr3c2 variant
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602301/
https://www.ncbi.nlm.nih.gov/pubmed/34795218
http://dx.doi.org/10.1038/s41439-021-00173-7
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