Frontiers in Endocrinology · 12 authors, 3 centres
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Whole-exome and RNA sequencing in children with diabetes and WFS1 variants from three families identified five pathogenic or likely pathogenic variants (three novel) and revealed enrichment of differentially expressed genes in immune-related pathways. One patient had dilated cardiomyopathy and brain atrophy detected at age 7 years and 3 months, the earliest reported age for WFS1-related encephalatrophy.
This case series systematically evaluated four patients with WFS1 variants from three families using clinical assessment, whole-exome sequencing, and RNA sequencing. Whole-exome sequencing revealed five pathogenic or likely pathogenic variants, of which three were novel. Dilated cardiomyopathy, a rare WFS1-related manifestation, was identified in one patient, along with MRI findings of brain atrophy at age 7 years and 3 months, reported as the earliest age of discovery. RNA sequencing showed that differentially expressed genes were mainly enriched in immune-related pathways, and the exon 1 region of HLA-DRB1 was not transcribed in two patients. The clinical phenotype was complex, with variable expressivity observed even within the same family. Limitations include the very small sample size, which restricts generalizability and the ability to draw firm conclusions about genotype-phenotype correlations or the pathogenic mechanisms suggested by the transcriptomic data.
