Incomplete penetrance in mitochondrial optic neuropathies.
Sign Up to like & getrecommendations! Published in 2017 at "Mitochondrion"
DOI: 10.1016/j.mito.2017.07.004
Abstract: Incomplete penetrance characterizes the two most frequent inherited optic neuropathies, Leber's Hereditary Optic Neuropathy (LHON) and dominant optic atrophy (DOA), due to genetic errors in the mitochondrial DNA (mtDNA) and the nuclear DNA (nDNA), respectively.… read more here.
Keywords: mitochondrial optic; penetrance mitochondrial; penetrance; mtdna ... See more keywords
How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?
Sign Up to like & getrecommendations! Published in 2024 at "Philosophical Transactions of the Royal Society B: Biological Sciences"
DOI: 10.1098/rstb.2023.0045
Abstract: Incomplete penetrance is the rule rather than the exception in Mendelian disease. In syndromic monogenic disorders, phenotypic variability can be viewed as the combination of incomplete penetrance for each of multiple independent clinical features. Within… read more here.
Keywords: disease mechanisms; penetrance; incomplete penetrance; genetic threshold ... See more keywords
Ten points to consider when providing genetic counseling for variants of incomplete penetrance and variable expressivity detected in a prenatal setting
Sign Up to like & getrecommendations! Published in 2020 at "Acta Obstetricia et Gynecologica Scandinavica"
DOI: 10.1111/aogs.13963
Abstract: Genetic testing platforms such as chromosomal microarray analysis and next generation sequencing often detect genetic variants of incomplete penetrance and variable expressivity. The difficulty to determine the exact genotype-phenotype correlations and to predict the clinical… read more here.
Keywords: detected prenatal; penetrance variable; prenatal setting; incomplete penetrance ... See more keywords
Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation
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DOI: 10.3390/genes8110309
Abstract: Monogenic forms of diabetes may account for 1–5% of all cases of diabetes, and may occur in the context of syndromic presentations. We investigated the case of a girl affected by insulin-dependent diabetes, diagnosed at… read more here.
Keywords: congenital cataract; double gene; cataract; incomplete penetrance ... See more keywords