HIST1H2BA
Understanding HIST1H2BA: A Gene Linked to Neurodevelopmental Disorders
Description
HIST1H2BA, or histone H2B type 1-H, is a gene that plays a crucial role in regulating gene expression by packaging DNA into chromatin, the material that makes up chromosomes. Mutations in HIST1H2BA have been linked to a range of neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and microcephaly (a condition characterized by a small head size).
Associated Diseases
- Intellectual Disability: Mutations in HIST1H2BA have been found in individuals with intellectual disability, which can affect cognitive abilities, learning, and social skills.
- Autism Spectrum Disorder (ASD): Some studies have associated HIST1H2BA mutations with an increased risk of autism spectrum disorder, a complex neurodevelopmental condition that affects social communication and repetitive behaviors.
- Microcephaly: HIST1H2BA mutations have been linked to microcephaly, a congenital condition characterized by an abnormally small head size and reduced brain growth.
- Other Neurodevelopmental Disorders: Mutations in HIST1H2BA have also been implicated in other neurodevelopmental disorders such as Rett syndrome and epileptic encephalopathy.
Did you Know ?
Approximately 1 in 100,000 newborns are affected by microcephaly. Mutations in HIST1H2BA are estimated to account for about 1% of these cases, highlighting their rare but significant contribution to this condition.
