ArticleClinical genetics2016
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
Article in Clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.American journal of human genetics · 2023Pooled it
- Identification of plasma biomarkers in a PTZ-induced Sudden Unexpected Death-like model through integrated proteomics and metabolomics methods.Frontiers in medicine · 2026Article
- A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome.Clinical genetics · 2025Article
- Article
- Recruitment of chromatin remodelers by XIST B-repeat region is variably dependent on HNRNPK.Human molecular genetics · 2025Article
- Genetic and Phenotypic Spectrum ofDiagnostics (Basel, Switzerland) · 2024Article
- Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.Diagnostics (Basel, Switzerland) · 2024Article
- Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.European journal of human genetics : EJHG · 2024Article
- hnRNPs: roles in neurodevelopment and implication for brain disorders.Frontiers in molecular neuroscience · 2024Review
- Derivation of a minimal functional XIST by combining human and mouse interaction domains.Human molecular genetics · 2023Article
- An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.American journal of human genetics · 2022Article
- Review
- The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development.Journal of developmental biology · 2021Review
- Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.Genome medicine · 2021Article
- Review
- Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation.Italian journal of pediatrics · 2020Article
- Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.Molecular genetics & genomic medicine · 2020Article
- Extracellular Control of Radial Glia Proliferation and Scaffolding During Cortical Development and Pathology.Frontiers in cell and developmental biology · 2020Review
- Uncovering the Role of RNA-Binding Protein hnRNP K in B-Cell Lymphomas.Journal of the National Cancer Institute · 2020Article
- Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.World journal of pediatrics : WJP · 2019Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, skeletal abnormalities and a range of organ malformations. Although at least two major causative genes have been identified, these do not explain all cases. Here we describe a patient with a complex Kabuki-like syndrome that included nodular heterotopia, in whom testing for several single-gene disorders had proved negative. Exome sequencing uncovered a de novo c.931_932insTT variant in HNRNPK (heterogeneous nuclear ribonucleoprotein K). Although this variant was identified in March 2012, its clinical relevance could only be confirmed following the August 2015 publication of two cases with HNRNPK mutations and an overlapping phenotype that included intellectual disability, distinctive facial dysmorphism and skeletal/connective tissue abnormalities. Whilst we had attempted (unsuccessfully) to identify additional cases through existing collaborators, the two published cases were 'matched' using GeneMatcher, a web-based tool for connecting researchers and clinicians working on identical genes. Our report therefore exemplifies the importance of such online tools in clinical genetics research and the benefits of periodically reviewing cases with variants of unproven significance. Our study also suggests that loss of function variants in HNRNPK should be considered as a molecular basis for patients with Kabuki-like syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.