Discovering a New Autism-Related Gene: KMT5B

A groundbreaking study recently published in Nature Genetics has uncovered a novel gene associated with autism[1]. This gene, KMT5B, is critical to developing the brain and nervous system. The research’s implications could pave the way for innovative diagnostic methods and treatment options for autism.

Conducted by a team at the University of California, San Francisco, the study analyzed the genomes of over 10,000 individuals with autism and more than 10,000 individuals without autism[2]. The results revealed that people with autism were more likely to possess mutations in the KMT5B gene.

KMT5B is a vital gene responsible for regulating the expression of other genes. Mutations in KMT5B can cause disruptions in brain and nervous system development, which may result in autism symptoms such as challenges in social communication and repetitive behaviors[3].

These findings mark a significant advancement in understanding the genetic foundations of autism. The researchers anticipate their discovery will contribute to developing new diagnostic tools and treatment strategies for autism[4].

In simpler terms, the study determined that individuals with autism are more likely to have mutations in a gene called KMT5B. This gene regulates the expression of other genes, and its mutations can cause brain and nervous system development issues. Such issues can lead to autism symptoms like social communication difficulties and repetitive behaviors[5].

The study’s findings represent a crucial step toward comprehending the genetic basis of autism. In addition, the researchers hope their work will develop novel methods for diagnosing and treating autism[6].


My name is Adi, and I am the proud parent of Saar, a lively 17-year-old who happens to have autism. I have created a blog,, with the aim to share our family's journey and offer guidance to those who may be going through similar experiences.Saar, much like any other teenager, has a passion for football, cycling, and music. He is also a budding pianist and enjoys painting. However, his world is somewhat distinct. Loud sounds can be overwhelming, sudden changes can be unsettling, and understanding emotions can be challenging. Nevertheless, Saar is constantly learning and growing, and his unwavering resilience is truly remarkable.

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