ArticleAmerican journal of human genetics2001
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 246 papers, 1 of them a synthesis that pooled it.
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Who cites it
246 citing papers in PubMed, 1 synthesis or guideline pooled it, 593 citations in OpenAlex.
- Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.Respiratory medicine · 2018Pooled it
- Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia: A Double-Blind Randomized Crossover Clinical Trial.Hypertension (Dallas, Tex. : 1979) · 2020Trial
- Trial
- Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.Journal of molecular neuroscience : MN · 2016Trial
- Trial
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Prime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation.Orphanet journal of rare diseases · 2026Article
- Neurotrophic keratopathy in childhood: advances in understanding of pathogenesis and management.Eye (London, England) · 2026Review
- Deletion of Elongator Protein 1 (Elp1) relieves heterochromatin defects in a Pol II mutant of Schizosaccharomyces pombe.Genetics · 2026Article
- tRNA modifications: greasing the wheels of translation and beyond.RNA biology · 2025Review
- Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Carbidopa: beyond Parkinson's disease.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2025Review
- Elp1 function in placode-derived neurons is critical for proper trigeminal ganglion development.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Engineered CRISPR-Base Editors as a Permanent Treatment for Familial Dysautonomia.bioRxiv : the preprint server for biology · 2024Article
- Genipin rescues developmental and degenerative defects in familial dysautonomia models and accelerates axon regeneration.Science translational medicine · 2024Article
- Article
- Metabolic Deficits in the Retina of a Familial Dysautonomia Mouse Model.Metabolites · 2024Article
- Retrograde tubing as a rescue treatment for megaoesophagus: a case report.BMJ open gastroenterology · 2024Article
- The Relationship Between Scoliosis, Spinal Bone Density, and Truncal Muscle Strength in Familial Dysautonomia Patients.Calcified tissue international · 2024Article
- Sensorimotor control in the congenital absence of functional muscle spindles.Experimental physiology · 2024Review
186 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 6 institutions in 3 countries.
Funding
Abstract
Familial dysautonomia (FD; also known as "Riley-Day syndrome"), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable autonomic dysfunction. Previously, we had mapped the FD gene, DYS, to a 0.5-cM region on chromosome 9q31 and had shown that the ethnic bias is due to a founder effect, with >99.5% of disease alleles sharing a common ancestral haplotype. To investigate the molecular basis of FD, we sequenced the minimal candidate region and cloned and characterized its five genes. One of these, IKBKAP, harbors two mutations that can cause FD. The major haplotype mutation is located in the donor splice site of intron 20. This mutation can result in skipping of exon 20 in the mRNA of patients with FD, although they continue to express varying levels of wild-type message in a tissue-specific manner. RNA isolated from lymphoblasts of patients is primarily wild-type, whereas only the deleted message is seen in RNA isolated from brain. The mutation associated with the minor haplotype in four patients is a missense (R696P) mutation in exon 19, which is predicted to disrupt a potential phosphorylation site. Our findings indicate that almost all cases of FD are caused by an unusual splice defect that displays tissue-specific expression; and they also provide the basis for rapid carrier screening in the Ashkenazi Jewish population.
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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.