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- Title
An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant.
- Authors
Noda, Saki; Aoyama, Kohei; Kondo, Yuto; Okamura, Jun; Suzuki, Atsushi; Yamaguchi, Naoya; Yoshida, Aya; Miyake, Yoshishige
- 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.
- Subjects
MINERALOCORTICOID receptors; WEIGHT gain; HEREDITY; GENETIC mutation; DIAGNOSIS; INFANTS; PREMATURE infants
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-021-00173-7