A PREVIOUSLY UNDESCRIBED DE-NOVO INSERTION-DELETION MUTATION IN THE BETA-MYOSIN HEAVY-CHAIN GENE IN A KINDRED WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY

A previously undescribed tie novo insertion-deletion mutation in the b eta cardiac myosin heavy chain gene was found in a kindred with famili al hypertrophic cardiomyopathy. In the mutated allele there is an inse rted-deleted guanine at nucleotides 8823 and 8850 of the beta myosin h eavy chain gene, resulting in a dramatic change of the aminoacid seque nce (AA 395-404). Such a mutation, detected in the proband and in his son but not in the proband's parents, is likely to produce major impai rment of myosin function.