ABOUT THE SRSF1 COMMUNITY
Learn more about our community and what we know about SRSF1
What is SRSF1 Haploinsufficiency?
SRSF1 is a gene located on chromosome 17 that gives cells instructions for a protein involved in RNA splicing, which is the process your cells use to edit genetic instructions before they're used to build proteins. Everyone has two copies of this gene, one inherited from each parent. SRSF1 haploinsufficiency happens when one copy stops working properly, and it turns out that one healthy copy isn't enough to fully do the job on its own.
This was only confirmed as a cause of developmental disorders in 2023, through a study of 17 individuals from 16 families across six countries. In most cases, the gene change is de novo, meaning it happened spontaneously and wasn't inherited from either parent. Nothing a parent did caused it, and in nearly every documented case, neither parent carries the variant themselves.
The condition affects each person differently, but commonly includes:
Developmental delay and intellectual disability
Speech and motor delays
Low muscle tone (hypotonia)
Behavioral differences, including anxiety, difficulty with transitions, or repetitive behaviors
Subtle but distinct facial features
In some cases, heart differences, skeletal differences like scoliosis, or vision differences
No two individuals present exactly alike, and severity varies from mild learning differences to more significant developmental needs. Researchers have also found that this condition sometimes shows up as part of a larger deletion in the same region of chromosome 17 (called 17q22), rather than a single gene change. If your report mentions a deletion rather than a specific SRSF1 variant, that is what it likely refers to.
What Is the SRSF1 Community?
We started the SRSF1 Community after realizing there was nowhere for families like ours to find each other. When we searched for support groups or patient organizations, we came up with almost nothing. SRSF1 haploinsufficiency and other SRSF1 genetic mutations are real and documented, but there's no dedicated foundation, registry, or research organization built around it yet.
This community exists to be that starting point. We're not a research institution, and we don't have a scientific advisory board, clinical or research staff. We're patients, parents, and family members who wanted a place to find each other, share what we've learned, and stay informed together as the science develops.
Right now, we’re a small but growing network connecting through this site and our Facebook group. Over time, we aim to support research in this area with the ultimate goal of finding a treatment for SRSF1 haploinsufficiency and other SRSF1 genetic mutations.