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. 2017 May 2;26(15):2874–2881. doi: 10.1093/hmg/ddx169

Figure 1.

Figure 1

Identification of recessive TAF1A mutations in a sibling pair with DCM. (A) Family pedigree. Square, male; circle, female; solid, affected; open, unaffected; black font, age at screening echocardiography; red font, age at diagnosis; arrow, proband. (B) An iterative filtering scheme of whole exome sequencing variant calls identified a single candidate gene, TAF1A. (C) Sanger sequencing verified compound heterozygous missense mutations. (D) Conservation of L84, G341, and surrounding residues.