نتایج جستجو برای: incomplete penetrance
تعداد نتایج: 61081 فیلتر نتایج به سال:
AIMS We investigated the presence of a clinical diagnosis of hypertrophic cardiomyopathy (HCM) and of risk factors for sudden cardiac death (SCD) at the first cardiological evaluation after predictive genetic testing in asymptomatic carriers of an MYBPC3 gene mutation. METHODS AND RESULTS Two hundred and thirty-five mutation carriers were cardiologically evaluated on the presence of HCM and r...
OBJECTIVE To identify the disease-causing mutation and to characterize penetrance and phenotypic variability in a large pedigree with episodic ataxia type 2 (EA-2) previously linked to chromosome 19. BACKGROUND Mutations in the CACNA1A gene on chromosome 19 encoding a calcium channel subunit cause EA-2, which is characterized by recurrent attacks of imbalance with interictal eye movement abno...
BACKGROUND Several recurrent copy number variants (CNVs) have been shown to increase the risk of developing schizophrenia (SCZ), developmental delay (DD), autism spectrum disorders (ASD), and various congenital malformations (CM). Their penetrance for SCZ has been estimated to be modest. However, comparisons between their penetrance for SCZ or DD/ASD/CM, or estimates of the total penetrance for...
Hailey-Hailey disease (HHD) is an autosomal dominant blistering dermatosis with incomplete penetrance caused by ATP2C1 gene mutation. Currently, there no cure for HHD; however therapeutic options aim to minimize the exacerbating factors and manage patients’ symptoms. A 58-year-old male presented a 10-year history of biopsy-proven HHD. He was seen consistently over course nine years multiple fla...
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemi...
BACKGROUND Incomplete penetrance and variable expression of hypertrophic cardiomyopathy (HCM) is well appreciated. Common genetic polymorphisms variants that may affect HCM penetrance and expression have been predicted but are not well established. METHODS AND RESULTS We performed a case-control genomewide association study to identify common HCM-associated genetic polymorphisms and then aske...
Saethre-Chotzen syndrome is characterised by craniosynostosis, facial asymmetry, low set frontal hairline, ptosis of the eyelids, deviated nasal septum, prominent crus of the ears, and a variable degree of brachydactyly and partial cutaneous syndactyly of the second and third fingers.12 Inheritance is autosomal dominant, mostly reported with a high degree of penetrance, although in a series rep...
Objective The aim of this study was to identify variants associated with familial late-onset Alzheimer disease (AD) using whole-genome sequencing. Methods Several families with an autosomal dominant inheritance pattern of AD were analyzed by whole-genome sequencing. Variants were prioritized for rare, likely pathogenic variants in genes already known to be associated with AD and confirmed by ...
Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for m...
Case control studies have reported associations between specific HLA class II antigens and idiopathic dilated cardiomyopathy (DCM), suggesting that genetically regulated immune response factors may be involved in the pathogenesis of this disease. In this study, families with DCM were used to test the hypothesis that a heritable gene defect in the HLA region is the primary genetic determinant fo...
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