Article

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape

2025-08-07

Abstract excerpt

Severe loss of function variants in the splicing regulatory protein RBM10 are known to cause TARP syndrome, a rare X-linked recessive congenital syndrome. In recent years, individuals with milder phenotypes have been published, suggesting a broader phenotypic spectrum. We report 37 new individuals with RBM10 variants and compare to 34 published cases. We find that the phenotype can be described as an “RBM10-phenot...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 99891e78-4b6a-54de-94c3-37cd4bfcab56
DOI: 10.1101/2025.08.05.25330579

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic LandscapeDOI 10.1101/2025.08.05.25330579Read

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.Semantic proximity Read

A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.Semantic proximity Read

RBM10: Harmful or helpful-many factors to consider.Semantic proximity Read

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.Semantic proximity Read

RBM10: Structure, functions, and associated diseases.Semantic proximity Read

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.Semantic proximity Read

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.Semantic proximity Read

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.Semantic proximity Read

Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study.Semantic proximity Read

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.Semantic proximity Read

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.Semantic proximity Read

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.Semantic proximity Read