ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 31 citations in OpenAlex.
- Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.The Journal of clinical investigation · 2021Trial
- Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.Molecular genetics & genomic medicine · 2026Article
- A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.BMC neurology · 2026Article
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- Case Report: AFrontiers in pediatrics · 2026Article
- Systematic perturbations of SETD2, NSD1, NSD2, NSD3, and ASH1L reveal their distinct contributions to H3K36 methylation.Genome biology · 2024Article
- Mechanisms of DNA Methylation Regulatory Function and Crosstalk with Histone Lysine Methylation.Journal of molecular biology · 2024Review
- Loss of function inGenetics in medicine open · 2024Article
- Auricular fistula: a review of its clinical manifestations, genetics, and treatments.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease.Neurology. Genetics · 2023Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Case report: AFrontiers in pediatrics · 2023Article
- From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.Italian journal of pediatrics · 2022Review
- Reprogramming of the epigenome in neurodevelopmental disorders.Critical reviews in biochemistry and molecular biology · 2022Review
- Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinoma.Cell reports · 2021Article
- Alternatively Splicing Interactomes Identify Novel Isoform-Specific Partners for NSD2.Frontiers in cell and developmental biology · 2021Article
- The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.BMC medical genomics · 2020Article
- De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.BMC medical genetics · 2019Article
- De novo loss-of-function variants inCold Spring Harbor molecular case studies · 2019Article
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8 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
purposeWolf-Hirschhorn syndrome (WHS) is a genomic disorder with a recognizable dysmorphology profile caused by hemizygosity at 4p16.3. Previous attempts have failed to map the minimal critical locus to a single gene, leaving open the possibility that the core phenotypic components of the syndrome are caused by the combined haploinsufficiency of multiple genes.
methodsClinical exome sequencing and "reverse" phenotyping.
resultsWe identified two patients with de novo truncating variants in WHSC1, which maps to the WHS critical locus. The phenotype of these two individuals is consistent with WHS, which suggests that haploinsufficiency of WHSC1 is sufficient to recapitulate the core phenotype (characteristic facies, and growth and developmental delay) of this classic microdeletion syndrome.
conclusionOur study expands the list of microdeletion syndromes that are solved at the single-gene level, and establishes WHSC1 as a disease gene in humans. Given the severe nature of the reported variants, the full phenotypic expression of WHSC1 may be further expanded by future reports of milder variants.
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