Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from U.S. laboratory genetic counselors.
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DOI: 10.1002/jgc4.1482
Abstract: Preimplantation genetic testing for monogenic disorders (PGT-M) was originally developed to identify embryos affected with serious childhood-onset disorders, but its use has recently broadened. Guidance on the use of PGT-M in the United States (U.S.)… read more here.
Keywords: genetic counselors; pgt; reduced penetrance; laboratory ... See more keywords
Reduced-penetrance Huntington’s disease-causing alleles with 39 CAG trinucleotide repeats could be a genetic factor of amyotrophic lateral sclerosis
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DOI: 10.1097/jcma.0000000000000837
Abstract: Background: Expanded HTT alleles with 40 or more CAG repeats were recently found to be a rare cause of frontotemporal dementia and amyotrophic lateral sclerosis (ALS) spectrum diseases. The aim of this study was to… read more here.
Keywords: htt; alleles cag; lateral sclerosis; cag repeats ... See more keywords
Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach
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DOI: 10.1136/jmedgenet-2020-106963
Abstract: Background Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is an X-linked motor neuron disorder caused by an expanded CAG repeat in the gene coding for the androgen receptor (AR). The range… read more here.
Keywords: range; penetrance; spinal bulbar; penetrance alleles ... See more keywords