In a small cohort of HCM patients (n = 8), we searched for mutations in the two most common genes responsible for HCM and found four missense mutations in the MYH7 gene encoding cardiac β-myosin heavy chain (R204H, M493V, R719W, and R870H) and three mutations in the myosin-binding protein C3 gene (MYBPC3) including one missense (A848V) and two frameshift mutations (c.3713delTG and c.702ins26bp).
4 mutations in MYH7 reported but no case information
(R204H, M493V, R719W, and R870H)
Pathogenic variants, likely pathogenic variants, and variants of uncertain significance in 23 sarcomeric and non-sarcomeric genes of hypertrophic cardiomyopathy patients.
11 Unique Variants
Variant1: c.2069T>A p.(Met690Lys)
Variant2: c.2608C>T p.(Arg870Cys)
Variant3: c.2189T>C p.(Ile730Thr)
Variant4: c.400T>C p.(Tyr134His)
Variant5: c.2608C>T p.(Arg870Cys)
Variant6: c.1350G>T p.(Lys450Asn)
Variant7: c.1988G>A p.(Arg663His)
Variant8: c.1477A>G p.(Met493Val)
Variant9: c.4130C>T p.(Thr1377Met)
Variant10: c.2972A>G p.(Lys991Arg)
Variant11: c.1350G>T p.(Lys450Asn)
Variant12: c.1426C>T p.(Leu476Phe)
Variant13 c.5560-8G>A p.(?)
(NM_000257.4:c.5560-8G>A MANE Preferred)