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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 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.

SUBMITTER: Noda S

PROVIDER: S-EPMC8602301 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature

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

Noda Saki S Aoyama Kohei K Kondo Yuto Y Okamura Jun J Suzuki Atsushi A Yamaguchi Naoya N Yoshida Aya A Miyake Yoshishige Y

Human genome variation 20211118 1

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. ...[more]

PMID: 34795218

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An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of <i>NR3C2</i>.

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