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

Abstract 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 hyponatre...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Saki Noda, Kohei Aoyama, Yuto Kondo, Jun Okamura, Atsushi Suzuki, Naoya Yamaguchi, Aya Yoshida, Yoshishige Miyake
Formato:	article
Lenguaje:	EN
Publicado:	Nature Publishing Group 2021
Materias:	Genetics QH426-470 Life QH501-531
Acceso en línea:	https://doaj.org/article/48738cc8ae42438ea96468fb74b264f7
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:48738cc8ae42438ea96468fb74b264f7
record_format	dspace
spelling	oai:doaj.org-article:48738cc8ae42438ea96468fb74b264f72021-11-21T12:27:57ZAn infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant10.1038/s41439-021-00173-72054-345Xhttps://doaj.org/article/48738cc8ae42438ea96468fb74b264f72021-11-01T00:00:00Zhttps://doi.org/10.1038/s41439-021-00173-7https://doaj.org/toc/2054-345XAbstract 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.Saki NodaKohei AoyamaYuto KondoJun OkamuraAtsushi SuzukiNaoya YamaguchiAya YoshidaYoshishige MiyakeNature Publishing GrouparticleGeneticsQH426-470LifeQH501-531ENHuman Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Genetics QH426-470 Life QH501-531
spellingShingle	Genetics QH426-470 Life QH501-531 Saki Noda Kohei Aoyama Yuto Kondo Jun Okamura Atsushi Suzuki Naoya Yamaguchi Aya Yoshida Yoshishige Miyake An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant
description	Abstract 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.
format	article
author	Saki Noda Kohei Aoyama Yuto Kondo Jun Okamura Atsushi Suzuki Naoya Yamaguchi Aya Yoshida Yoshishige Miyake
author_facet	Saki Noda Kohei Aoyama Yuto Kondo Jun Okamura Atsushi Suzuki Naoya Yamaguchi Aya Yoshida Yoshishige Miyake
author_sort	Saki Noda
title	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_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_sort	infant case of pseudohypoaldosteronism type1a caused by a novel nr3c2 variant
publisher	Nature Publishing Group
publishDate	2021
url	https://doaj.org/article/48738cc8ae42438ea96468fb74b264f7
work_keys_str_mv	AT sakinoda aninfantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT koheiaoyama aninfantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT yutokondo aninfantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT junokamura aninfantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT atsushisuzuki aninfantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT naoyayamaguchi aninfantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT ayayoshida aninfantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT yoshishigemiyake aninfantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT sakinoda infantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT koheiaoyama infantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT yutokondo infantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT junokamura infantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT atsushisuzuki infantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT naoyayamaguchi infantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT ayayoshida infantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant AT yoshishigemiyake infantcaseofpseudohypoaldosteronismtype1acausedbyanovelnr3c2variant
_version_	1718419003852980224

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

Ejemplares similares