DKKL1
DKKL1: A Gene Implicated in Intellectual Disability and Neurodevelopmental Disorders
Description
DKKL1 is a gene located on chromosome 10q26.3. It encodes a protein called dyskerin pseudouridine synthase 1, which is involved in the modification of ribosomal RNA (rRNA). rRNA is an essential component of ribosomes, the cellular machinery responsible for protein synthesis.
Associated Diseases
Mutations in the DKKL1 gene have been linked to several diseases, including:
- X-linked dyskeratosis congenita (X-DC): A rare genetic disorder characterized by abnormal skin pigmentation, nail dystrophy, and bone marrow failure.
- Intellectual disability (ID): A condition characterized by significant limitations in intellectual and adaptive functioning.
- Autism spectrum disorder (ASD): A neurodevelopmental disorder that affects social communication and interaction.
- Schizophrenia: A severe mental illness characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
Approximately 1 in 10,000 males are affected by X-DC, making it a relatively rare condition. However, mutations in the DKKL1 gene have been identified in a significant number of cases of ID, ASD, and schizophrenia.
