Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy

摘要: Background and objectives: Dilated cardiomyopathy (DCM) is a rare cardiac disease characterised by left ventricular enlargement, reduced contractility, impaired systolic function. Childhood DCM clinically genetically heterogenous associated with mutations in over 100 genes. The aim of this study was to identify novel variations infantile DCM. Materials Methods: Targeted next generation sequencing (NGS) 181 cardiomyopathy-related genes performed three unrelated consanguineous families from Saudi Arabia. Variants were confirmed their frequency established 50 known cases 80 annotated healthy controls. Results: index presented between 7 10 months age severe In Family A, there digenic inheritance two heterozygous variants: variant LAMA4 (c.3925G > p.Asp1309Asn) mutation MYH7 (c.2770G A; p.Glu924Lys). p.Asp1309Asn predicted be likely pathogenic according international guidelines. other had no identifiable potentially deleterious variants. Conclusions: Inheritance genetic variants may have synergistic or dose effect cause We report variation NGS useful the molecular diagnosis guide whole-family management counselling.