What is the SOX5 Gene? 

The SOX5 gene is located in the 12th chromosome and is the only gene associated with Lamb-Shaffer Syndrome. The SOX5 gene is responsible for the development of white matter cells in your brain, which is basically your brains hard wiring. The gene was found in 2012 by Dr. Lisa Shaffer and Dr. Alan Lamb who did the first genetic and clinical research paper on a select number of people affected. 

Lamb-Shaffer Syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present. Another common symptom about our kids is that they are typically very happy, they like water and have laughs that will light up a room. 

There are currently less than 600 people in the world diagnosed with Lamb-Shaffer Syndrome. We have come to learn that most of our kids were initially misdiagnosed with autism and we believe there are many many more people with this disorder that are misdiagnosed. There is one genetic test that can test for a mutation, deletion or partial deletion, which are the 3 variances of the gene associated with Lamb-Shaffer Syndrome. That test is the full exome sequencing test. If you need more information about this test, please reach out to us.

Currently, in 2022, there is genetic research being done at The Children's Hospital of Philadelphia. The only non-profits raising money for this research are Harper's Quest and The Lamb-Shaffer Syndrome Organization. Both non-profits work hand in hand and have the same mission. 

There are TWO ways to help our community.

1) Please share our social media posts. The more people we find with this syndrome, the more grants we will have access to for research.

2) Please donate, ask family and friends to donate, host an event, create a fundraiser on Facebook or get creative with how we can raise money to fund our research. If you would like to host an event, please reach out to us VIA e-mail for approval and social media support.

SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations

Written By: Marco Angelozzi and Véronique Lefebvre 


Research Articles


Lamb-Shaffer Syndrome