Original Article
Novel compound heterozygous mutations of the myosin heavy chain gene in patients with hypertrophic cardiomyopathy
Author(s): Advithi Rangaraju, Satyanarayana Matsa Lova, Narasimhan Calambur and Pratibha Nallari*
background: Hypertrophic cardiomyopathy (HCM) is a multifactorial disorder, with mutations implicated in 14 sarcomeric and cytoskeletal genes, leading to genotypic and phenotypic heterogeneity, and a challenging genetic and clinical diagnosis. The genetic characteristics of HCM have been studied for more than two decades in various ethnic and racial groups, and many novel genetic variations have been reported. The myosin heavy chain gene is the most heavily implicated gene in HCM, with >200 reported mutations, the majority of which have been found in the head-rod junction. The rod portion of MYH7, coded by exons 29 to 40 and belonging to the light meromyosin (LMM) region, has not been characterized to the same extent as the head domain with respect to single-nucleotide polymorphisms (SNPs)/mutations.
OBJECTIVE: To screen the conserved LMM region, constituting exons 27 to 39.. Read More»
DOI:
10.4172/2368-0512.1000021
