286 Familial and sporadic hypertrophic cardiomyopathy: differences and similarities in a genotyped population. A follow-up study

Brito, D.; Marques-Vidal, P; Richard, Pascale; Komajda, Michel; Madeira, Hugo

doi:10.1016/s1567-4215(06)80188-8

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“…However, nearly 50% HCM patients had no apparent clinical family history of HCM. Although de novo mutations [6], [7] varied clinical penetrance, and the presence of second mutation can attribute to parts of these cases [8]–[13], recessive inheritance may be also involved.…”

Section: Introductionmentioning

confidence: 99%

Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy

Wang

Yang

et al. 2013

PLoS ONE

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BackgroundHypertrophic cardiomyopathy (HCM) due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved.MethodsA pedigree was identified with suspected autosomal recessive transmission of HCM. Twenty-six HCM-related genes were comprehensively screened for mutations in the proband with targeted second generation sequencing, and the identified mutation was confirmed with bi-directional Sanger sequencing in all family members and 376 healthy controls.ResultsA novel missense mutation (c.1469G>T, p.Gly490Val) in exon 17 of MYBPC3 was identified. Two siblings with HCM were homozygous for this mutation, whereas other family members were either heterozygous or wild type. Clinical evaluation showed that both homozygotes manifested a typical HCM presentation, but none of others, including 5 adult heterozygous mutation carriers up to 71 years of age, had any clinical evidence of HCM.ConclusionsOur data identified a MYBPC3 mutation in HCM, which appeared autosomal recessively inherited in this family. The absence of a family history of clinical HCM may be due to not only a de novo mutation, but also recessive mutations that failed to produce a clinical phenotype in heterozygous family members. Therefore, consideration of recessive mutations leading to HCM is essential for risk stratification and genetic counseling.

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Section: Introductionmentioning

confidence: 99%