https://www.selleckchem.com/pr....oducts/gsk-3008348-h
Introduction Genetic causes of the intellectual disability Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome (MRT47, MIM 616193) are mutations in the recently described FMN2 (formin 2 gene). Case report A boy with intellectual disability had a novel homozygous nonsense mutation (c.2245C T/p.Gln749*) leading to a premature stop codon in exon 6 of the FMN2 (NM_001305424) gene detected by Clinical Exome Sequencing (CES). Conclusion Clinical features of a patient with a novel nonsense FMN2 mutation is
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