The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

(The American Journal of Human Genetics 109, 1923–1931; October 6, 2022) As a result of an author oversight in the originally published version of this article, Michael F. Wangler and Shinya Yamamoto were omitted from the author list. This error has now been corrected in the article online. The authors apologize for the error and any inconvenience that may have resulted. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityHuang et al.The American Journal of Human GeneticsSeptember 5, 2022In BriefA cohort of five unrelated individuals with the same heterozygous de novo variant in MTSS2 (GenBank: NM_138383.2: c.2011C>T [p.Arg671Trp]), present with syndromic mild intellectual disability. Modeling in Drosophila suggested that the variant had decreased normal function and increased toxicity compared to the reference MTSS2 and may act as a dominant-negative allele. Full-Text PDF Open Archive