Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess [version 2; referees: 2 approved]
oleh: Ranjit Narayanan, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Vishal Dixit, Vinod Scaria, Sridhar Sivasubbu
| Format: | Article |
|---|---|
| Diterbitkan: | F1000 Research Ltd 2017-09-01 |
Deskripsi
Syndromes of mineralocorticoid excess (SME) are closely related clinical manifestations occurring within a specific set of diseases. Overlapping clinical manifestations of such syndromes often create a dilemma in accurate diagnosis, which is crucial for disease surveillance and management especially in rare genetic disorders. Here we demonstrate the use of whole exome sequencing (WES) for accurate diagnosis of rare SME and report that p.R337C variation in the HSD11B2 gene causes progressive apparent mineralocorticoid excess (AME) syndrome in a South Indian family of Mappila origin.