Chung–Jansen Syndrome with obesity. Issue 3 (May 2021)

• Record Type: Journal Article
• Authors: Kaur, Harleen; Panigrahi, Inusha
• Is Part Of: Obesity research & clinical practice. Volume 15:Issue 3(2021)
• Page Start: 303
• Page End: 305
• Publication Date: 2021-05
• Subjects: Brachydactyly -- CHUJANS -- Intellectual disability -- Obesity -- Hypotonia -- Pleckstrin; Obesity -- Research -- Periodicals; Obesity -- Treatment -- Periodicals; Obesity -- Periodicals; Obésité -- Recherche -- Périodiques; Obésité -- Traitement -- Périodiques; Obesity -- Research; Obesity -- Treatment; Electronic journals; Periodicals; 616.398
• DOI: 10.1016/j.orcp.2021.03.015
• Languages: English
• ISSNs: 1871-403X

Abstract

Abstract: Chung–Jansen Syndrome is a recently identified obesity syndrome, characteristic clinical features of which are global developmental delay, intellectual disability, obesity and dysmorphism (DIDOD). We present a child with the syndrome who also had hypothyroidism and renal involvement in form of small kidneys on one side. The next generation sequencing done in the child showed a nonsense variant in the PHIP gene leading to premature chain termination in the protein on bioinformatic analysis.