Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy

Figures

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  Fig. 1. Overview on individuals. The figure lists key information on all affected individuals including variant postions. The conventional symbols were used for the pedigrees.

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  Fig. 2. Imaging findings of the affected individuals. Prenatal ultrasound scans at the level of four-chamber view of individuals of family 1 (A: Voluson S8, AB2-7 convex abdominal ultrasound transducer 2–8 MHz; B: Voluson E8, RAB 6-D convex abdominal transducer 2–8 MHz; C, D: Philips EPIQ Elite, V 2–7 convex abdominal ultrasound transducer 2–9 MHz): fetus 1.1 at 28 weeks of gestation (A) and fetus 1.3 at 31 weeks of gestation (B) showing edematous skin and lungs maximally compressed by massive pleural effusions, polyhydramnios. Prenatal myocardial hypertrophy in fetus 1.2 at 25 weeks of gestation (C) and in fetus 1.3 at 28 weeks of gestation (D). Postnatal ultrasound scans of individual 1.2 (Zonare ZS3, Mindray, USA): E spongy left ventricular myocardium (nonstandard plane nonstandard with 20 MHz linear transducer), F frontal hygroma in parasagittal view (blue crosses mark a distance of 1.2 cm, 7,5 MHz curved array transducer). G Postmortem babygram of individual 1.2 (born 31+2, deceased on the 4th day of life) showing thickened soft tissue and pleural effusion on the right side, normal skeletal findings (color figure online).