Researchers have made a new discovery of a genetic mutation linked to learning disabilities and autism.
They say the discovery points towards identifying more disorders. This could, in turn, lead to more accurate diagnosis and better treatment.
Scientists at Cold Spring Harbor Laboratory, in New York, say the newly discovered mutation can run in families.
Professor Gholson Lyon: his team has discovered a new genetic mutation linked to autism and learning disabilities
The mutation occurs in a gene known as NAA15. As well as autism, it can cause heart defects and abnormal facial features.
Mutation linked to Ogden syndrome
The new discovery is linked to the mutation underlying Ogden syndrome, which is a more serious condition. However, it shares many of the same symptoms.
Geneticist Wendy Chung at Columbia University brought the first case of “NAA15-related disorder” to the attention of lead researcher Professor Gholson Lyon.
She and colleagues published a paper. It detailed a boy with a mutation in NAA15 who had heart defects and learning disabilities.
Lyon and colleagues have since collected referrals from clinicians around the world. These referrals have identified 37 people in 32 families with a mutation in NAA15.
The NAA15 anomaly affects both sexes. This is unlike Ogden syndrome, which affects only males.
Lyon says it may be possible to help those affected by mutations as the price of genetic sequencing drops. He says they may be offered “education and services in early life which could lead to better overall functioning”.
The researcher expects scientists to discover many more disorders caused by rare mutations like NAA15.
Sharper focus in naming conditions including autism
He hopes this will bring an end to lumping conditions together under broad categories. He includes among these categories such labels as “intellectual disability” and “autism”.
In the future, he thinks progress in genetics will create a sharper focus and see conditions split into “much finer entities”.
Lyon says our understanding of Fragile X has progressed through “extensive examinations of mutations in the FMRP gene associated with that disease”.
He believes the same will prove possible with autism and learning disabilities.
The American Journal of Human Genetics published the research earlier this month.
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Published: 18 April 2018
