Lancet Neurology: Single gene variation for dystatia: A full sequence study of exons

Dystrofunction is a clinical and genetic heterogeneity disorder that occurs in isolated dystatic disorders, other movement disorders (combined dystatic disorders) or multi-symptom esopathy (individual or combined dystatic disorders accompanied by other nervous systems).
, however, our understanding of the cause is not complete.
this paper aims to clarify the single gene causes of the main clinical types of dystia.
: In this exon full sequence study, participants were from 33 specialized centers for motor disorders and neurology in Austria, the Czech Republic, France, Germany, Poland, Slovakia and Switzerland.
individual with dystia is diagnosed according to the consistent definition of dystia.
if the target cases had no genetic diagnosis and no indication of the cause of the disease later in life, they would be eligible to participate in the study.
second criterion does not apply to participants clinically diagnosed with dystebic disorder cerebral palsy.
dna from the subject's blood and sequenced the entire exon.
to find pathogenic variants in known disease-related genes, all variants are screened and classified for unresisted variants according to the guidelines of the American Academy of Medical Genetics and Genomics.
all variants are reviewed by experts to verify their clinical significance.
results: A sequence analysis was performed on the exoscopy of 764 patients with dystia and 346 healthy parents recruited between 1 June 2015 and 31 July 2019.
found variants of pathogenic or potentially pathogenic diseases in 135 (19%) of 728 family systems, including 78 different single-gene diseases.
The authors' team observed that 100 out of 222 patients with dystatic disorders (individually or combined) with non-motor disorder-related neurological symptoms (45 percent), with the exception of cases of perinatal brain injury, had a greater proportion of individuals diagnosed with dystitis (19 out of 98) or simple dystatic disorder (388) with a mutation.
of all types of dystia, 104 (65%) of the 160 detected variants affected genes associated with neurodevelopmental disorders.
the authors found diagnostic variations in 11 genes previously unrelated to dystitis and proposed a predictive clinical score that could guide the implementation of exon sequencing in routine diagnostics.
in 15 family systems, we identified 12 candidate genes.
including IMPDH2, which encodes a key python biosynthetic enzyme, and there is strong evidence that it is associated with neurodevelopmental disorders in dystase disorders.
paper found six variants of IMPDH2 from four separate queues, which are predicted to be harmful from the head and are expected to lead to the release of radon metabolism.
, this paper emphasizes the overlap between diagnosis of dystallycological disorders and neurodevelopmental disorders, proposes a framework for integrating the entire exosomal group sequencing into conventional diagnosis, and demonstrates the genetic burden of disease in patients with dystafitis cerebral palsy.