Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang
Yan Li1,2, Chen Cao3, Yanfei Luo1
1Department of Pediatric, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
Introduction:
The aim of the study was to compare the diagnostic yields and utility of whole-exome sequencing (WES) for Mendelian disorders in pediatric patients of different ethnic backgrounds in Xinjiang.
Methods:
A retrospective analysis of 572 pediatric patients suspected of Mendelian disorders, admitted to the Pediatric Center of the First Affiliated Hospital of Xinjiang Medical University from January 2016 to June 2020. WES was performed in accredited laboratories, and reports were verified by supervising physicians.
Results:
The overall diagnostic yield was 42.3%, with a higher yield in Uyghur than Han patients (46.5% vs. 36.2%). Inheritance pattern distributions differed by ethnicity: autosomal recessive findings were more frequent in Uyghur (60.8%) than Han (29.8%), whereas autosomal dominant (46.4%) and de novo variants (38.1%) comprised larger proportions in Han than in Uyghur (31.6% and 22.8%); X-linked findings were less common in both groups. Diagnostic yield varied by phenotype category (33.3%-73.1%), was generally higher in consanguineous than non-consanguineous cases, and increased with phenotypic complexity (16.7%, 54.1%, and 85.7% across increasing phenotype burden). Among patients with follow-up, WES results influenced medication management (61.0%), clinical/dietary management (89.2%), and subspecialist referral (36.9%).
Conclusion:
Exome testing shows higher diagnostic yield and clinical utility, especially for patients from consanguineous families in Xinjiang. Carrier screening could effectively prevent severe genetic disorders in the region, expanding the genotype and phenotype in the Chinese pediatric population.
