Chung-Jansen Syndrome with obesity

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Chung-Jansen Syndrome is an emerging genetic disorder characterized by developmental delay, intellectual disability, obesity, and dysmorphism (DIDOD).
• The genetic underpinnings and full clinical spectrum of this syndrome are still being elucidated.

Purpose of the Study:

• To report a case of Chung-Jansen Syndrome with previously uncharacterized comorbidities.
• To identify the genetic variant associated with the syndrome in this patient.

Main Methods:

• Clinical assessment of a pediatric patient presenting with features of Chung-Jansen Syndrome.
• Next-generation sequencing (NGS) to identify genetic variants.
• Bioinformatic analysis to evaluate the pathogenicity of identified variants.

Main Results:

• The patient exhibited classic DIDOD features along with hypothyroidism and unilateral renal hypoplasia.
• NGS identified a nonsense variant in the PHIP gene.
• Bioinformatic analysis confirmed the variant leads to premature protein termination.

Conclusions:

• This case expands the known clinical phenotype of Chung-Jansen Syndrome to include hypothyroidism and renal abnormalities.
• A PHIP gene variant is implicated in Chung-Jansen Syndrome, contributing to premature protein truncation.