De Novo Variants in the Splicing Factor Gene SF3B1 Are Associated with Neurodevelopmental Disorders

Constitutional variants in the splicing factor SF3B1 have been linked to neurodevelopmental disorders for the first time, according to a new multinational study co-authored by Phoenix Children’s Pediatric Neurologist and Neurogeneticist Michael Kruer, MD, et al.

By
August 14, 2026
2 min

Phoenix Children's Medical Connection

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Constitutional variants in the splicing factor SF3B1 are linked to neurodevelopmental disorders for the first time.
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A cohort of 26 individuals with developmental delays exhibited SF3B1 constitutional heterozygous variants, mostly de novo.
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The variants included loss-of-function (n=9) and missense variants (n=17), with missense variants linked to more severe phenotypes.
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Functional assays showed that de novo missense variants subtly altered splicing without causing complete loss of SF3B1 function.
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The findings suggest SF3B1 should be considered in diagnostic algorithms for children with unexplained developmental issues.

De Novo Variants in the Splicing Factor Gene SF3B1 Are Associated with Neurodevelopmental Disorders

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Original Source(s)

De Novo Variants in the Splicing Factor Gene SF3B1 Are Associated with Neurodevelopmental Disorders

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