منابع مشابه
Digenic inheritance in medical genetics
Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are only dozens of human disease phenotypes with evidence for DI in some pedigrees. The advent of high-throughput sequencing (HTS) has made it simpler to identify monogenic disease causes and could sim...
متن کاملDigenic Inheritance in Cystinuria Mouse Model
Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation of cystine in urine. Mutations in SLC3A1, which codes for the heavy subunit rBAT, cause cystinuria t...
متن کاملFurther support for digenic inheritance in Bardet-Biedl syndrome.
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterised by the primary features of obesity, retinal dystrophy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS also have an increased risk for developing diabetes mellitus, hypertension, and congenital heart disease. Seven loci have been mapped with evidence of at least one addi...
متن کاملDigenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.
SCN5A and SNTA1 are reported susceptible genes for long QT syndrome (LQTS). This study was designed to elucidate a plausible pathogenic arrhythmia mechanism for the combined novel mutations R800L-SCN5A and A261V-SNTA1 on cardiac sodium channels. A Caucasian family with syncope and marginally prolonged QT interval was screened for LQTS-susceptibility genes and found to harbor the R800L mutation ...
متن کاملClinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders
The existence of epistasis in humans was first predicted by Bateson in 1909. Epistasis describes the non-linear, synergistic interaction of two or more genetic loci, which can substantially modify disease severity or result in entirely new phenotypes. The concept has remained controversial in human genetics because of the lack of well-characterized examples. In humans, it is only possible to de...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2018
ISSN: 0009-9163
DOI: 10.1111/cge.13150