Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

Figures

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  FIGURE 1. Pedigree of the family. Affected and/or suddenly deceased members are denoted by a filled circle, unaffected members are denoted by empty symbols. Ages at death are indicated beside each member. Genotypes are indicated below each member. (+) indicates the wild‐type allele. The GenBank reference sequence and version number used for the genes studied are NM_006767.3 for LZTR1 (OMIM number: 600574) and NM_001103.3 for ACTN2 (OMIM number: 102573)

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  FIGURE 2. Photos of the patient at age of (a) 6 months (b) 16 months (c) 2 years and 3 months (d) and 3 years and 10 months. Note the large forehead, frontal bossing, bitemporal narrowing, sparse eyebrows and eyelashes, hypertelorism, epicanthus, down‐slanting palpebral fissures, depressed root of nose, anteverted nares, posteriorly rotated ears with thickened and pointed helix, detached ear lobes, smooth long philtrum, thick lower lip, microretrognathia, short neck (a‐d), and sparse and curly hair (c)

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  FIGURE 3. Photos of extremities showing deep palmoplantar creases and genu valgum