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, hyp...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human genome variation 2021-11, Vol.8 (1), p.41-41, Article 41
Hauptverfasser:	Noda, Saki, Aoyama, Kohei, Kondo, Yuto, Okamura, Jun, Suzuki, Atsushi, Yamaguchi, Naoya, Yoshida, Aya, Miyake, Yoshishige
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/1516/1510 692/163/2743 Acidosis Age Autosomal dominant inheritance Babies Biomedical and Life Sciences Biomedicine Data Report Electrolytes Gene Expression Gene Function Gene Therapy Genomes Genomics Haploinsufficiency Heredity Human Genetics Hyperkalemia Hyponatremia Infants Molecular Medicine Mutation Neonates Pediatrics Plasma Pneumothorax Potassium Pseudohypoaldosteronism Salt Sodium Standard deviation
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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 .
ISSN:	2054-345X 2054-345X
DOI:	10.1038/s41439-021-00173-7