A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain

Mansouri, Maria; Elalaoui, Siham Chafai; Bencheikh, Bouchra Ouled Amar; Alloussi, Mohamed El; Dion, Patrick A.; Sefiani, Abdelaziz; Rouleau, Guy A.

doi:10.1016/j.pediatrneurol.2014.06.009

Cited by 18 publications

(15 citation statements)

References 20 publications

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“…Variants of SCN9A in heterozygote have been reported in patients of generalized epilepsy with febrile seizure plus (GEFS+), familiar febrile seizure, and other non-epilepsy related phenotypes36. Mutations in SCN9A that follow the recessive inheritance have been identified in family with pain insensitivity37. In family D1422, we identified a compound heterozygotes of c.3719 A>G (p.Lys1240Arg) and c.121 G>C (p.Asp41His) in a proband with CAE.…”

Section: Resultsmentioning

confidence: 81%

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Wang

Rao

et al. 2017

Sci Rep

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Genetic factors play a major role in the etiology of epilepsy disorders. Recent genomics studies using next generation sequencing (NGS) technique have identified a large number of genetic variants including copy number (CNV) and single nucleotide variant (SNV) in a small set of genes from individuals with epilepsy. These discoveries have contributed significantly to evaluate the etiology of epilepsy in clinic and lay the foundation to develop molecular specific treatment. However, the molecular basis for a majority of epilepsy patients remains elusive, and furthermore, most of these studies have been conducted in Caucasian children. Here we conducted a targeted exome-sequencing of 63 trios of Chinese epilepsy families using a custom-designed NGS panel that covers 412 known and candidate genes for epilepsy. We identified pathogenic and likely pathogenic variants in 15 of 63 (23.8%) families in known epilepsy genes including SCN1A, CDKL5, STXBP1, CHD2, SCN3A, SCN9A, TSC2, MBD5, POLG and EFHC1. More importantly, we identified likely pathologic variants in several novel candidate genes such as GABRE, MYH1, and CLCN6. Our results provide the evidence supporting the application of custom-designed NGS panel in clinic and indicate a conserved genetic susceptibility for epilepsy between Chinese and Caucasian children.

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Section: Resultsmentioning

confidence: 81%

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Wang

Rao

et al. 2017

Sci Rep

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“…They also have a complete loss of the sense of smell (anosmia). SCN9A homozygous missense and deletion variants have been described in these patients, who do not produce functional Nav1.7 channels, and has been linked to the absence of pain perception . Partial deletion of pain perception was also described .…”

Section: Epidemiologymentioning

confidence: 99%

“…SCN9A homozygous missense and deletion variants have been described in these patients, who do not produce functional Nav1.7 channels, and has been linked to the absence of pain perception. [213][214][215][216][217][218][219][220][221][222][223] Partial deletion of pain perception was also described. 224 The clinical phenotype of patients with reduced pain FIGURE 1 Prevalence of underlying causes in patients with SFN.…”

Section: Na V 17 In Channelopathy-associated Insensitivity To Painmentioning

confidence: 99%

Small‐fiber neuropathy: Expanding the clinical pain universe

Sopacua

Hoeijmakers

Merkies

et al. 2019

J Peripheral Nervous Sys

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Small‐fiber neuropathy (SFN) is a disorder of thinly myelinated Aδ and unmyelinated C fibers. SFN is clinically dominated by neuropathic pain and autonomic complaints, leading to a significant reduction in quality of life. According to international criteria, the diagnosis is established by the assessment of intraepidermal nerve fiber density and/or quantitative sensory testing. SFN is mainly associated with autoimmune diseases, sodium channel gene variants, diabetes mellitus, and vitamin B12 deficiencies, although in more than one half of patients no etiology can be identified. Recently, gain‐of‐function variants in the genes encoding for the Nav1.7, Nav1.8 and Nav1.9 sodium channel subunits have been discovered in SFN patients, enlarging the spectrum of underlying conditions. Sodium channel gene variants associated with SFN can lead to a diversity of phenotypes, including different pain distributions and presence or absence of autonomic symptoms. This suggests that SFN is part of a clinical continuum. New assessments might contribute to a better understanding of the cellular and molecular substrates of SFN and might provide improved diagnostic methods and trial designs in the future. Identification of the underlying mechanisms may inform the development of drugs that more effectively address neuropathic pain and autonomic symptoms of SFN.

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“…To promote medical research in Morocco, serious efforts and several strategic goals must be agreed on by all stakeholders, scientists, and decision makers. The strategy should include upgrading research infrastructure and equipment, providing sufficient funds and (Sefiani et al 1988;Tajir et al 2012;Grant et al 2013;Makrythanasis et al 2014;Mansouri et al 2014;Natiq et al 2014;Qrafli et al 2014Qrafli et al , 2014Janati Idrissi et al 2015;Ratbi et al 2015;Twigg et al 2015;Elalaoui et al 2016;Guaoua et al 2016;Jouali et al 2016 International University (UIASS) and Paris (Imagine) Institute of genetic diseases, the main genetic research institute in France. The objective aims to better understand genetic diseases, bringing diagnostic, and therapeutic solutions to Moroccan patients and their families (Doctinews, 2016) • A laboratory of genetic engineering will be created at Fes Euro-m editerran eenne University.…”

Section: Research In Geneticsmentioning

confidence: 99%

Genetics and genomic medicine in Morocco: the present hope can make the future bright

Belhassan

Ouldim

Sefïani

2016

Mol Genet Genomic Med

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A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain

Cited by 18 publications

References 20 publications

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Small‐fiber neuropathy: Expanding the clinical pain universe

Genetics and genomic medicine in Morocco: the present hope can make the future bright

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