BACKGROUND: @entity1121 ( @entity1121 ) is the most common genetic @entity299 and is often a consequence of mutations in the myosin-binding protein C gene ( @entity18963 ). Until now, however, no systematic review has been published on mutations of this gene in a Portuguese population. OBJECTIVES: In a Portuguese population of @entity1121 @entity1 : 1) to determine the prevalence of mutations in the @entity18963 gene; 2) to characterize the mutations genetically; 3) to analyze the phenotype and compare it with the genotype-phenotype correlations for mutations in this gene described in the literature. METHODS: We studied 45 consecutive index @entity1 with @entity1121 (41 with familial @entity1121 ). In each @entity1 , we performed a genetic study to detect mutations in the @entity18963 gene. Once a mutation was identified and genetically characterized, a broad phenotypic evaluation was performed. The genetic and clinical data were then compared with those described in the literature. RESULTS: Of the 45 @entity1 , 5 (11.1%) showed mutations in the @entity18963 gene (2 deletions and 3 missense mutations), all in @entity1 with familial @entity1121 . Of these, 4 were 'new' mutations: @entity70529 (exon 17); @entity70530 (exon 32); @entity70531 (exon 17) and @entity70532 (exon 25). The other mutation, @entity24644 (exon 17), had been previously described in the literature. Three of the 5 mutations were located in exon 17. Four of these 5 @entity1 were symptomatic, mainly with @entity712 and @entity943 . No @entity1 was at high risk for @entity1164 . Most of the @entity1 had non-obstructive @entity1121 . The ECG, echocardiogram, Holter monitoring and treadmill exercise test showed highly variable results, reflecting the heterogeneity typical of this disease. CONCLUSIONS: In a Portuguese population of 45 @entity1121 @entity1 , 5 (11.1%) had mutations in the @entity18963 gene (3 missense mutations--theoretically less frequent in the @entity18963 gene--and 2 deletions). Four of these were 'new' mutations and 3 of them were located in exon 17 (which may be a 'hot spot' for @entity18963 gene mutations in the Portuguese population). In all the @entity1 , the phenotypic expression was different from that usually described for these mutations; in 3 of our @entity1 , the clinical manifestations and penetrance were of early onset and one @entity1 had a highly symptomatic form of obstructive @entity1121 . These data reflect the large number of exceptions to the classic genotype-phenotype correlations in @entity1121 , highlighting the role of other factors, genetic and non-genetic, in regulating penetrance, clinical expression and prognosis in each family and in each individual @entity1 .

XXXX in a Portuguese population: mutations in the myosin-binding protein C gene.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity1164 :: ('MESH:D016757', 'Disease') :: ['sudden cardiac death'] @entity712 :: ('MESH:D006333', 'Disease') :: ['heart failure'] @entity943 :: ('MESH:D001145', 'Disease') :: ['supraventricular arrhythmias'] @entity24644 :: ('p|SUB|R|502|Q', 'ProteinMutation') :: ['Arg 502 Gln'] @entity70531 :: ('|DEL|505|', 'ProteinMutation') :: ['Lis 505 Del'] @entity70529 :: ('p|SUB|A|522|T', 'ProteinMutation') :: ['Ala 522 Thr'] @entity18963 :: ('4607', 'Gene') :: ['MYBPC3'] @entity70532 :: ('|DEL|813|', 'ProteinMutation') :: ['Lis 813 Del'] @entity299 :: ('MESH:D006331', 'Disease') :: ['heart disease'] @entity1121 :: ('MESH:D002312', 'Disease') :: ['HCM', 'Hypertrophic cardiomyopathy', 'hypertrophic cardiomyopathy'] @entity70530 :: ('p|SUB|GLI|1205|D', 'ProteinMutation') :: ['Gli 1205 Asp']
@entity1121 :: (MESH:D002312,Disease) :: ['Hypertrophic cardiomyopathy']
