Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
December 2014
in “
Molecular cytogenetics
”
TLDR A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
The study identified a familial 1q22 microduplication involving eleven genes, associated with psychiatric disorders, intellectual disability, and late-onset autoimmune inflammatory responses in seven family members. The microduplication was linked to neurological symptoms, suggesting a dosage imbalance in this genomic region might cause the observed phenotype. However, the connection to inflammatory disease was less clear, necessitating further research. Genetic screening in affected families was emphasized to understand the underlying mechanisms and guide potential treatments.
