ArticleJournal of the peripheral nervous system : JPNS2018
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.
Article in Journal of the peripheral nervous system : JPNS, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.PloS one · 2024Article
- Spying on specific splicing in spinal nerve injury.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Article
- Novel SCN9A variant associated with congenital insensitivity to pain.Molecular biology reports · 2023Article
- NaExperimental neurology · 2023Article
- Olfactory Dysfunction: Etiology, Diagnosis, and Treatment.Deutsches Arzteblatt international · 2023Review
- A Review of the Therapeutic Targeting of SCN9A and Nav1.7 for Pain Relief in Current Human Clinical Trials.Journal of pain research · 2023Review
- Selective Targeting of Nav1.7 with Engineered Spider Venom-Based Peptides.Channels (Austin, Tex.) · 2021Review
- Review
- Article
- The physiological function of different voltage-gated sodium channels in pain.Nature reviews. Neuroscience · 2021Review
- The development of somatosensory neurons: Insights into pain and itch.Current topics in developmental biology · 2021Review
- Contribution of Skin Biopsy in Peripheral Neuropathies.Brain sciences · 2020Review
- Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.Pflugers Archiv : European journal of physiology · 2020Review
- Co-expression networks uncover regulation of splicing and transcription markers of disease.Proceedings of the ... annual International Conference on BioInformatics and Computational Biology · 2020Article
- Diagnostic criteria for small fibre neuropathy in clinical practice and research.Brain : a journal of neurology · 2019Article
- Defining the Functional Role of NaNeuron · 2019Article
- A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.Journal of the peripheral nervous system : JPNS · 2018Article
- Rat NaMolecular painArticle
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
Abstract
Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder presenting with a spectrum of clinical features caused by mutations in different genes. A 10-year-old girl with CIP, hyposmia and hypogeusia, and her unaffected twin and parents underwent next generation sequencing of SCN9A exons and flanking splice sites. Transcript analysis from whole blood successfully assayed the effect of the mutation on the mRNA splicing by polymerase chain reaction amplification on cDNA and Sanger sequencing. We identified the novel splicing variant c.1108-2A>G compound with the p.Arg896Gln (c.2687G>A) missense mutation previously described in a homozygous patient. The new intronic variant was predicted to induce exon 10 skipping. Conversely, SCN9A mRNA assay demonstrated its partial deletion with a loss of 46 nucleotides causing a premature stop codon in position p.Gln369 (NP_002968). Genetic analysis showed that the two variants were biallelic, being the mother and brother heterozygous carriers of the missense mutation, and the father heterozygous for the splicing mutation. Skin biopsy showed lack of Meissner's corpuscles, loss of epidermal nociceptors and normal autonomic organ innervation. We report a novel splicing mutation and provide clues on its pathogenic effect, broadening the spectrum of genotypes and phenotypes associated to CIP.
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Registered trials
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