Supplementary Table S1. Characteristics of 16 patients from 13 families excluded from WES/CNV analysis. ID Cardiac Age of onset Family history Extra-cardiac features Genetic diagnosis phenotype F32P1 DCM 5 weeks Consanguinity Retinitis pigmentosa (NM_015120) c.10483C>T, dup ALMS1 p.(Q3495*), homozygous 4q31.21, five regions > Mb F33P1# DCM with 5 months negative Hypotonia (NM_000432.3) 403-1G>C, normal MYL2 restrictive Generalized myopathy homozygous component and LVH F34P1* DCM neonatal Consanguinity no (NM_020778), c.4736-1G>A, NP ALPK3 p.Val1579Glyfs*30, homozygous F35P1 DCM 16 yr Mild developmental delay in Ataxia Kearns Sayre-syndrome, mtDNA del 6 kb NP Third brother Diabetes mellitus in 40% of muscle cells degree Progressive learning disabilities AV-block External opthalmoplegia Epilepsy F36P1# DCM 6 months Paternal grandfather DCM Hypotonia (NM_000432.3) 403-1G>C, normal MYL2 3rd degree family member SCD Areflexia homozygous 46 y Brother DCM F36P2# DCM with 4 months Paternal grandfather DCM Hypotonia (mild) (NM_000432.3) 403-1G>C, NP MYL2 restrictive 3rd degree family member SCD Myoclonus homozygous component 46 y and IVS Sister DCM and RV F37P1 DCM 8 months negative Hypotonia (NM_000432.3) 403-1G>C, normal MYL2 Myoclonus homozygous Developmental delay Plagiocephaly
Supplementary Table S1. Characteristics of 16 patients from 13 families excluded from WES/CNV analysis. ID Cardiac phenotype Age of onset Family history Extra-cardiac features Genetic diagnosis F32P1 DCM 5 weeks Consanguinity Retinitis pigmentosa ALMS1 (NM_015120) c.10483C>T, p.(Q3495*), homozygous dup 4q31.21, five regions > Mb F33P1# DCM with restrictive component and LVH 5 months negative Hypotonia Generalized myopathy MYL2 (NM_000432.3) 403-1G>C, homozygous normal F34P1* DCM neonatal Consanguinity no ALPK3 (NM_020778), c.4736-1G>A, p.Val1579Glyfs*30, homozygous NP F35P1 DCM Third degree AV-block 16 yr Mild developmental delay in brother Ataxia Diabetes mellitus Progressive learning disabilities External opthalmoplegia Epilepsy Kearns Sayre-syndrome, mtDNA del 6 kb in 40% of muscle cells NP F36P1# DCM 6 months Paternal grandfather DCM 3rd degree family member SCD 46 y Brother DCM Hypotonia Areflexia MYL2 (NM_000432.3) 403-1G>C, homozygous normal F36P2# DCM with restrictive component and IVS and RV 4 months Paternal grandfather DCM 3rd degree family member SCD 46 y Sister DCM Hypotonia (mild) Myoclonus MYL2 (NM_000432.3) 403-1G>C, homozygous NP F37P1 DCM 8 months negative Hypotonia Myoclonus Developmental delay Plagiocephaly MYL2 (NM_000432.3) 403-1G>C, homozygous normal
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