DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism
Sign Up to like & getrecommendations! Published in 2022 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.12.004
Abstract: We report the case of a patient with dystrophinopathy caused by DMD exon 2 duplication, showing marked asymmetric muscle atrophy. Immunostaining of the biopsied muscle tissue showed a mosaic staining, suggesting a somatic mosaicism. Polymerase… read more here.
Keywords: rearrangement; duplication; dmd exon; somatic mosaicism ... See more keywords
Improving detection level of somatic mosaicism in neurofibromatosis type 1
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Oncology"
DOI: 10.1093/annonc/mdz238.083
Abstract: Abstract Background Neurofibromatosis type 1 (NF-1) is a tumor predisposition syndrome resulting from mutations in NF1 antioncogene. Differential diagnosis with genetic testing is essential in NF-1 diagnostics due to its clinical variability. Identifying of pathogenic… read more here.
Keywords: level somatic; somatic mosaicism; analysis; neurofibromatosis ... See more keywords
Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12902
Abstract: A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation. read more here.
Keywords: mutation implications; somatic mosaicism; slc2a1 mutation; mosaicism slc2a1 ... See more keywords
Somatic mosaicism in normal tissues
Sign Up to like & getrecommendations! Published in 2019 at "Science"
DOI: 10.1126/science.364.6444.966-j
Abstract: Human Genetics Somatic cells can accumulate mutations over the course of an individual's lifetime. This generates cells that differ genetically at specific loci within the genome. To explore how this genetic diversity in individuals contributes… read more here.
Keywords: science; cancer; normal tissues; somatic mosaicism ... See more keywords
Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106638
Abstract: Purpose To analyse the clinical spectrum, genetic features, specific D4Z4 hypomethylation status and genotype–phenotype correlations for somatic mosaicism in facioscapulohumeral dystrophy (FSHD). Methods This was a prospective, hospital-based, case–control, observational study of 35 participants with… read more here.
Keywords: somatic mosaicism; median range; severity; genetic features ... See more keywords
Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2017-0095
Abstract: Abstract Background: Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46,XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients… read more here.
Keywords: somatic mosaicism; androgen; androgen insensitivity; androgen receptor ... See more keywords
Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of endocrinology"
DOI: 10.1530/eje-18-0778
Abstract: Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1 and can be diagnosed based on clinical, familial and/or genetic criteria. We present a… read more here.
Keywords: multiple endocrine; men1; mosaicism; germline somatic ... See more keywords
Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2018.00255
Abstract: Cornelia de Lange Syndrome (CdLS) is a well described multiple malformation syndrome caused by alterations in genes encoding subunits or regulators of the cohesin complex. In approximately 70% of CdLS patients, pathogenic NIPBL variants are… read more here.
Keywords: intronic nipbl; lange syndrome; somatic mosaicism; family ... See more keywords
Frequent somatic mosaicism in T lymphocyte subsets in individuals with and without multiple sclerosis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.993178
Abstract: Background Somatic variants are variations in an individual’s genome acquired after the zygotic stadium and result from mitotic errors or not (fully) repaired DNA damage. Objectives To investigate whether somatic mosaicism in T lymphocyte subsets… read more here.
Keywords: somatic variants; lymphocyte subsets; mosaicism lymphocyte; somatic mosaicism ... See more keywords
The human brain through the lens of somatic mosaicism
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2023.1172469
Abstract: Every cell in the human brain possesses a unique genome that is the product of the accumulation of somatic mutations starting from the first postzygotic cell division and continuing throughout life. Somatic mosaicism in the… read more here.
Keywords: cell; mosaicism human; brain; human brain ... See more keywords