ArticleAmerican journal of human genetics2019
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- From Somatic Driver to Molecular Therapy in Retinal, Choroidal and Periocular Vascular Disease: Mosaicism, Targetable Pathways and Ocular Toxicity.International journal of molecular sciences · 2026Review
- Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing.Scientific reports · 2024Article
- What the Interventional Radiologist Needs to Know about the Genetics of Vascular Anomalies.Seminars in interventional radiology · 2024Review
- Central conducting lymphatic anomaly: from bench to bedside.The Journal of clinical investigation · 2024Review
- Updates in Genetic Testing for Head and Neck Vascular Anomalies.Oral and maxillofacial surgery clinics of North America · 2024Review
- Control-independent mosaic single nucleotide variant detection with DeepMosaic.Nature biotechnology · 2023Article
- ProfilingGenetics in medicine open · 2023Article
- Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.Genetics in medicine open · 2023Article
- Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.Pediatric dermatology · 2022Article
- Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.Advances in therapy · 2022Article
- Review
- Incidental findings from cancer next generation sequencing panels.NPJ genomic medicine · 2021Article
- Lymphangioma of the fetal neck within the PIK3CA-related-overgrowth spectrum (PROS): A case report.Clinical case reports · 2021Article
- Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies.Frontiers in pediatrics · 2021Review
- Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.Orphanet journal of rare diseases · 2020Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disorders of somatic mosaicism (DoSM) are a diverse group of syndromic and non-syndromic conditions caused by mosaic variants in genes that regulate cell survival and proliferation. Despite overlap in gene space and technical requirements, few clinical labs specialize in DoSM compared to oncology. We adapted a high-sensitivity next-generation sequencing cancer assay for DoSM in 2014. Some 343 individuals have been tested over the past 5 years, 58% of which had pathogenic and likely pathogenic (P/LP) findings, for a total of 206 P/LP variants in 22 genes. Parameters associated with the high diagnostic yield were: (1) deep sequencing (∼2,000× coverage), (2) a broad gene set, and (3) testing affected tissues. Fresh and formalin-fixed paraffin embedded tissues performed equivalently for identification of P/LP variants (62% and 71% of individuals, respectively). Comparing cultured fibroblasts to skin biopsies suggested that culturing might boost the allelic fraction of variants that confer a growth advantage, specifically gain-of-function variants in PIK3CA. Buccal swabs showed high diagnostic sensitivity in case subjects where disease phenotypes manifested in the head or brain. Peripheral blood was useful as an unaffected comparator tissue to determine somatic versus constitutional origin but had poor diagnostic sensitivity. Descriptions of all tested individuals, specimens, and P/LP variants included in this cohort are available to further the study of the DoSM population.
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