Monozygotic triplets with juvenile-onset autoimmunity and 18p microdeletion involving PTPRM.

ABSTRACT: Abnormal gene dosage from copy number variants has been associated with susceptibility to autoimmune disease. This includes 18p deletion syndrome, a chromosomal disorder with an estimated prevalence of 1 in 50,000 characterized by intellectual disability, facial dysmorphology, and brain abnormalities. The underlying causes for autoimmune manifestations associated with 18p deletions, however, remain unknown. Our objective was to investigate a distinctive case involving monozygotic triplets concordant for developmental delay, white matter abnormalities, and autoimmunity, specifically juvenile-onset Graves' thyroiditis. By chromosomal microarray analysis and whole genome sequencing, we found the triplets to carry a de novo interstitial 5.9 Mb deletion of chromosome 18p11.31p11.21 spann

SUBMITTER: Herlin MK 

PROVIDER: S-EPMC11445036 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature