Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1


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WELZEL M., AKIN L. , BUESCHER A., Guran T., HAUFFA B. P. , Hoegler W., ...More

EUROPEAN JOURNAL OF ENDOCRINOLOGY, vol.168, no.5, pp.707-715, 2013 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 168 Issue: 5
  • Publication Date: 2013
  • Doi Number: 10.1530/eje-12-1000
  • Title of Journal : EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Page Numbers: pp.707-715

Abstract

Background: Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the alpha (SCNN1A), beta (SCNN1B) or gamma (SCNN1G) subunit of the epithelial Na+ channel (ENaC). While autosomal dominant mutation of the MR cause renal PHA1, autosomal recessive mutations of the ENaC lead to systemic PHA1. In the latter, affected children suffer from neonatal onset of multi-organ salt loss and often exhibit cystic fibrosis-like pulmonary symptoms.