HNRNPH2-related disorders

HNRNPH2-related disorders are a group of rare genetic conditions caused by mutations in the HNRNPH2 gene. This gene plays a crucial role in the regulation of RNA splicing, a process essential for modifying RNA molecules after they are transcribed from DNA. Mutations in HNRNPH2 can lead to a variety of developmental and neurological issues, including intellectual disability, developmental delay, and sometimes features of autism spectrum disorder.

Genetics

The HNRNPH2 gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. These proteins are involved in the processing of pre-mRNA, influencing both its splicing and stability. HNRNPH2 mutations are inherited in an X-linked dominant manner, meaning a single copy of the mutated gene on the X chromosome can cause the disorder in both males and females. However, due to the X-linked nature of the gene, females may have a milder phenotype than males.

Symptoms and Diagnosis

Symptoms of HNRNPH2-related disorders can vary widely among affected individuals but commonly include:

• Intellectual disability
• Developmental delay
• Behavioral issues, including features of autism spectrum disorder
• Muscle tone abnormalities
• Possible facial dysmorphisms

Diagnosis of HNRNPH2-related disorders is based on clinical evaluation and confirmed through genetic testing identifying a pathogenic mutation in the HNRNPH2 gene.

Management and Treatment

There is no cure for HNRNPH2-related disorders, and treatment is symptomatic and supportive. Management strategies may include:

• Developmental therapies (e.g., physical, occupational, and speech therapy)
• Behavioral therapies
• Educational support
• Medication for controlling possible seizures or other medical issues

Research

Research into HNRNPH2-related disorders is ongoing, with studies aimed at understanding the precise role of the HNRNPH2 gene in development and how mutations lead to the specific symptoms observed in affected individuals. This research is crucial for developing targeted therapies in the future.

NIH genetic and rare disease info

• NIH info on HNRNPH2-related disorders

HNRNPH2-related disorders is a rare disease.