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. 2016 Jul;25(3):111-4.
doi: 10.1297/cpe.25.111. Epub 2016 Jul 20.

A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1

Toshiki Tsunogai  1 , Ichiro Miyata  2 , Saori Kotake  1 , Ryuki Matsuura  1 , Ken Takagi  1 , Hiroyuki Nanba  1 , Noriko Takahata  1 , Toshihiro Tajima  3 , Yasuyuki Wada  1
Affiliations

A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1

Toshiki Tsunogai et al. Clin Pediatr Endocrinol. 2016 Jul.
No abstract available

Keywords: mineralocorticoid receptor; novel mutation; pseudohypoaldosteronism.

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Figures

Fig. 1.
Fig. 1.
Growth chart (for the case of a Japanese girl aged 0–24 mo). At admission, her height and weight were both under −2.0 SD. After NaCl supplementation, her growth curve improved gradually and returned to the normal range.
Fig. 2.
Fig. 2.
Mutation of NR3C2. The patient, the mother, and two elder brothers each had a heterozygous single base insertion (c.2724insT). This insertion created a premature stop codon (p.Lys909fsX1) in exon 8. In each sequence panel, double bands are present after the insertion site, which is always indicated with an arrow.
Fig. 3.
Fig. 3.
Pedigree diagram. Her 2 elder brothers and mother had the same mutation but asymptomatic.
See this image and copyright information in PMC

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References

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