8q12.3 deletion, the YTHDF3 gene and normal brain development

chromosome 8

The YTHDF3 gene is located at chromosome 8q12.3 deletion. The data demonstrates that this gene is necessary for normal brain development.

In animal models the YTHDF3 gene is necessary for normal development of the brain. However this
gene has not been shown to cause any Mendelian disease. In humans, the gene YTHDF3 is located
at 8q12.3. The authors report 4 unrelated patients with deletions 8q12.3 involving this gene. The size
of the deletions varied from 1.38 Mb to 2.6 Mb. One of these deletions affected only the YTHDF3 gene;
in three other cases some additional genes were also involved. Three deletions occurred de novo; in the
4th case the parents were not examined. The age of the patients varied from 4 to 22 years. All patients had
intellectual disability, one of them also had autism; another one had pervasive developmental
disorder. The physical development of the patients (weight, height, head circumference) was within
normal limits. They did not have dysmorphism or visceral defects. These data show that the loss of the
YTHDF3 gene causes complex of neurodevelopmental problems confirming the role of this gene for
normal brain functioning.

Terkelsen T. et al. “Mono-allelic loss of YTHDF3 and neurodevelopmental disorder:
clinical features of four individuals with 8q12.3 deletions”. “Clinical Genetics” 2022,
v. 101, 208-213. 8q12.3 deletion and the YTHDF3 gene

Chromosome Disorder Outreach Inc. medical geneticist and medical advisor Dr. Iosif Lurie M.D. Ph.D examines newly published research studies to locate the most important and relevant for our members. Synopses of these articles are then posted to our website’s research pages. For more information on any article please contact info@chromodisorder.org