Key result
An erratum was published to correct the mutation in the article title from R189H to R179H for two patients with ACTA2 mutations and complex congenital heart defects.
This is an erratum correcting a mutation name in the title of a case report.
R179H ACTA2 cases in complex CHD warrant targeted testing; leaves open broader phenotypic validation in larger cohorts.
DOI 10.1002/ajmg.a.38102 Am J Med Genet Part A 173A:959–965 Correspondence: Thushiha Logeswaran, M.D., Department of Pediatric Cardiology, Justus-Liebig-University of Giessen, Feulgenstraße 10-12, 35392 Gießen, Germany. Email: thushiha.logeswaran@paediat.med.uni-giessen.de The authors have brought to our attention an error in their article title. R189H should be replaced with R179H. The corrected article title follows, “Two patients with the heterozygous R179H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome”. The authors and publisher regret this error.
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Logeswaran et al. (2017) studied Multisystemic smooth muscle dysfunction syndrome with complex congenital heart defects (n=2). Heterozygous R179H mutation in ACTA2 was evaluated. An erratum was published to correct the mutation in the article title from R189H to R179H for two patients with ACTA2 mutations and complex congenital heart defects.
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