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- Title
Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism.
- Authors
Barone Pritchard, amanda; Ritter, alyssa; Kearney, Hutton M.; Izumi, Kosuke
- Abstract
Interstitial and terminal deletions of chromosome 4q have been described for many years and have variable phenotypes depending on the size of the deletion present. Clinical features can include developmental delay, growth difficulty, digital differences, dysmorphic features, and cardiac anomalies. Here, we present an infant with pseudohypoaldosteronism found to have a deletion of 4q31.21q31.23, including NR3C2. Heterozygous mutations in NR3C2 have been reported to cause autosomal dominant pseudohypoaldosteronism type 1 (PHA1A). This represents a rare case of PHA1A due to a contiguous interstitial deletion and highlights the importance of evaluating patients with overlapping deletions for PHA1A.
- Publication
Molecular Syndromology, 2019, Vol 10, Issue 6, p327
- ISSN
1661-8769
- Publication type
Article
- DOI
10.1159/000505279