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

Saki Noda; Kohei Aoyama; Yuto Kondo; Jun Okamura; Atsushi Suzuki; Naoya Yamaguchi; Aya Yoshida; Yoshishige Miyake

doi:10.1038/s41439-021-00173-7

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

Hum Genome Var. 2021 Nov 18;8(1):41. doi: 10.1038/s41439-021-00173-7.

Authors

Saki Noda¹, Kohei Aoyama^{2

3}, Yuto Kondo¹, Jun Okamura¹, Atsushi Suzuki⁴, Naoya Yamaguchi⁴, Aya Yoshida⁴, Yoshishige Miyake¹

Affiliations

¹ Department of Pediatrics, Ichinomiya Municipal Hospital, Ichinomiya, Japan.
² Department of Pediatrics, Ichinomiya Municipal Hospital, Ichinomiya, Japan. kohei-a@med.nagoya-cu.ac.jp.
³ Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan. kohei-a@med.nagoya-cu.ac.jp.
⁴ Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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.