Alternate gene names: HNRPH2, FTP3
Associated syndromes or conditions: None.
Genomic location: Xq22.1
Diagnoses observed in people with changes in the HNRNPH2 gene:
- Autism Spectrum Disorder – yes
- Intellectual Disability or Developmental Delay – yes
- Epilepsy or Seizures – yes
- Attention Deficit Hyperactivity Disorder – no
- Schizophrenia – no
- Bipolar Disorder – no
- Simons VIP Connect Facebook Community for HNRNPH2 Families
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Research Article Summaries:
Below, we've summarized several research articles that include information about HNRNPH2. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.
- Bain et al. (2016) – Variants in HNRNPH2 on the X chromosome are associated with a Neurodevelopmental Disorder in Females
Using whole-exome sequencing of nearly 5,000 males and females, researchers from Columbia University were able to identify six females with genetic changes (or mutations) of the HNRNPH2 gene, which is closely associated with development and gene expression. Since the HNRNPH2 gene is located on the X chromosome*, males with this genetic change (who only have one copy of the X chromosome) may be too severely affected to survive past early embryonic development. Ranging from age 2 to age 34, all six females identified have genetic changes (mutations) not found in either of their parents (de novo) and exhibit intellectual disability or developmental delay, hypotonia (muscle weakness), and differences in facial features. Other similar clinical features were observed as outlined below.
*Humans have 23 pairs of chromosomes, and for chromosome pairs 1 through 22, one copy of each chromosome comes from each parent. For example, people typically have one copy of chromosome 1 that they inherited from their mother; and a second copy of chromosome 1 that they inherited from their father. These two copies work together and are responsible for different traits and features observed in each of us. The 23rd pair of chromosomes are the X and Y chromosomes (also called “sex chromosomes”) – these are the chromosomes that carry the genes that determine a person’s sex. Men typically inherit one X chromosome and one Y chromosome; while women typically inherit two X chromosomes. Like chromosomes 1-22, the sex chromosomes can be associated with certain genetic changes.
You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: HNRNPH2
Back to: Genetic Changes We're Studying