What is KDM1A?
KDM1A or LSD1 is an important gene in the field of epigenetics, as it was the first known histone demethylase. This means that it has a key role in regulating other genes. In plain English – it has a systemic influence over a person’s development, and is highly preserved down to basic organisms like the zebrafish. Mutations on this gene seem to have a significant impact and there is a growing body of medical research focused on better understanding this dynamic. The majority of known mutations appear to be de novo (spontaneous/not inherited).
Common Differences
While there are significant differences in how KDM1A / LSD1 mutation affects development there are also commonalities. Some are listed here, but please note, this is not an exhaustive or medically detailed list.
Global Developmental Delay most children have hypotonia and do not walk until much later than their peers. Many have delayed fine motor skills and ongoing speech delays as well.
Midline Defects many children have experienced cleft palate, C1 stenosis, tethered spinal cord, enlarged tonsils / adenoids.
Mitochondrial Disorder a few children have been diagnosed with Mito disorder.
Autism some children have been diagnosed with Autism.
Seizures a few children have experienced seizures soon after birth.
What does this mean for me?
The first question on every parent’s mind when they receive the genetic report confirming a mutation on this gene is, what does this mean for my child? Since exome / whole gene sequencing only became available in recent years, the population of diagnosed children is young, small, and growing. While all of the children have some medical or developmental challenges, there is clearly a range of outcomes.
What can I do?
If you are a new patient family, please consider creating an anonymous profile on MyGene2, which will help with research efforts on this gene! The more profile data we have, the more researchers can generate insights on the impact these mutations have. As there is not much known yet about this disorder, every child will have their own path!
Here are some things families in our community are doing to support their kids:
Global Developmental Delay and Autism
Early intervention through physical, occupational, speech therapy, and behavioral therapies have helped children progress. Of the children we know, all have been able to walk by age 5 and some are in general education grade-level classes while others might be in special education.
Be sure to check state and local resources for early intervention programs!
Significant Speech Delay
Midline and other Medical Defects
Children have had procedures like tonsil and adenoid removal, soft palate cleft repair, and MRI imaging to identify and treat additional defects. Connecting with families and learning of others’ experiences helps when weighing options and communicating with providers.
Connect with families on MyGene2
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Research Resources
- MyGene2 - review profiles and connect with families and researchers