HNRNPH2-related disorders

HNRNPH2-related disorder is a neurodevelopmental disorder caused by a heterozygous mutation in the HNRNPH2 gene on the X chromosome at position Xq22. The gene encodes a member of the heterogeneous nuclear ribonucleoprotein family, RNA binding proteins that shuttle between the nucleus and the cytoplasm and act on pre-mRNA to influence spliceosome assembly at nearby splice sites, thereby controlling splicing. The mutations show themselves as developmental delay, intellectual disability, hypotonia and seizures, among other features. Because the disorder is X-linked and male patients were at first hard to identify, it was initially believed to affect only females, with male conceptuses thought unviable. More recent studies have found male patients, though they remain far fewer.