Work

Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in one of three patients of USP9X variant-associated Autism Spectrum Disorder

Year: 2025

Type: article

Abstract: Introduction: X-Linked Intellectual Developmental Disorder 99 (XLID99) is a rare neurodevelopmental disorder associated with mutations in the USP9X gene. This study reports on three patients diagnosed with autism spectrum disorder (ASD), highlighting novel genetic findings. Case Presentation: Among the three patients, two male siblings exhibited a novel USP9X gene missense variant, while the third, a female, presented a unique deletion of the USP9X gene alongside adrenal insufficiency and mosaic Turner syndrome. This variant has not been reported in public databases and may influence ASD development. Conclusion: This report documents the first instance of a triple diagnosis of XLID99, Turner syndrome, and congenital adrenal hyperplasia. Findings underline the significance of genetic evaluation in ASD for identifying rare and complex diagnoses.

Source: Molecular Syndromology

DOI: 10.1159/000543957

Authors: Ahmet Güleç, Hamide Betul Gerik-Celebi, Meliha Demiral

Institution: Balıkesir Atatürk City Hospital

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4407088104