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Whole exome sequencing identified a de novo mutation in TNNT2. A, Family pedigree. Square=male; circle=female; solid=affected; open=unaffected. B, Sanger sequencing of TNNT2 confirmed the R141W mutation. C, Gene and protein topology for TNNT2. The identified substitution lies within a known Tm binding domain. ACTC1 indicates actin, alpha, cardiac muscle 1; Tm, tropomyosin; TnC, troponin C type 1 (slow); TnI, troponin I type 3 (cardiac).
