Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia. Issue 4 (2nd March 2017)

• Record Type: Journal Article
• Authors: Pozzi, Sara; Tan, Wen‐Hann; Martinez‐Barbera, JuanPedro
• Is Part Of: Clinical case reports. Volume 5:Issue 4(2017)
• Page Start: 463
• Page End: 470
• Publication Date: 2017-03-02
• Subjects: HESX1 -- hypopituitarism -- septo‐optic dysplasia; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.868
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Septo‐optic dysplasia (SOD) is a rare condition for which the precise etiology is still unclear. Elucidating the genetic component of SOD is a difficult but necessary task for the future. We describe herein a novel HESX1 c.475C>T (p.R159W) mutation and demonstrate its potential pathogenicity in the development of this rare disease. Abstract : Septo‐optic dysplasia (SOD) is a rare condition for which the precise etiology is still unclear. Elucidating the genetic component of SOD is a difficult but necessary task for the future. We here describe a novel HESX1 c.475C>T (p.R159W) mutation and demonstrate its potential pathogenicity in the development of this rare disease.