A Novel Mutation in SCN9A in a Child With Congenital Insensitivity to Pain
| Autor: | Jacov Levy, Einav Wajsbrot, Ruti Parvari, Tamir-Hostovsky Liran, Zamir Shorer |
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| Rok vydání: | 2014 |
| Předmět: |
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Molecular Pain Insensitivity Congenital DNA Mutational Analysis Nonsense mutation Anosmia Frameshift mutation Exon Developmental Neuroscience Channelopathy medicine Humans Gene Genetics business.industry NAV1.7 Voltage-Gated Sodium Channel Infant medicine.disease Neurology Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Female Neurology (clinical) medicine.symptom business Congenital insensitivity to pain |
| Zdroj: | Pediatric Neurology. 50:73-76 |
| ISSN: | 0887-8994 |
| DOI: | 10.1016/j.pediatrneurol.2013.09.007 |
| Popis: | Backround Congenital insensitivity to pain (CIP) is a rare condition in which patients have no pain perception and anosmia but are otherwise essentially normal (OMIM 243000). The recent discovery of the genetic defects underlying 3 monogenic pain disorders has provided additional and important insights about some components of human pain. Genetic studies in families demonstrating recessively inherited channelopathy-associated insensitivity to pain have identified nonsense mutations that result in truncation of the voltage-gated sodium channel type IX subunit (SCN9A), a 113.5-kb gene comprising coding 26 exons. Here we describe a patient with CIP with a new mutation in SCN9A not described yet. Methods All exons were sequenced. Result All 26 coding exons were sequenced and two changes were identified in homozygosity in exon 10: c.1126 A > C causing K376Q and c.1124delG causing p.G375Afs* frame shift. Conclusion We report a novel, loss-of-function mutation in homozygosity that causes congenital insensitivity to pain and provide a comprehensive clinical description of the patient. This contributes to the clinical and neurophysiological characteristic of the sodium channel Na v 1.7 channelopathy and expand our genetic knowledge which might provide more accurate and comprehensive clinical electrophysiological and genetic information. |
| Databáze: | OpenAIRE |
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