Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation

Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation. We report a new variant of HSAN (Type IX) in t...

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Autores principales: Poojary, Shital, Jaiswal, Saurabh, Shah, Kapisha Sunny, Bhalala, Krishna B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423241/
https://www.ncbi.nlm.nih.gov/pubmed/32831372
http://dx.doi.org/10.4103/ijd.IJD_416_18
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author Poojary, Shital
Jaiswal, Saurabh
Shah, Kapisha Sunny
Bhalala, Krishna B
author_facet Poojary, Shital
Jaiswal, Saurabh
Shah, Kapisha Sunny
Bhalala, Krishna B
author_sort Poojary, Shital
collection PubMed
description Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation. We report a new variant of HSAN (Type IX) in two siblings (of Indian origin) with a novel mutation of SCN11A gene and a distinct clinical phenotype.
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spelling pubmed-74232412020-08-20 Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation Poojary, Shital Jaiswal, Saurabh Shah, Kapisha Sunny Bhalala, Krishna B Indian J Dermatol Case Report Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation. We report a new variant of HSAN (Type IX) in two siblings (of Indian origin) with a novel mutation of SCN11A gene and a distinct clinical phenotype. Wolters Kluwer - Medknow 2020 /pmc/articles/PMC7423241/ /pubmed/32831372 http://dx.doi.org/10.4103/ijd.IJD_416_18 Text en Copyright: © 2020 Indian Journal of Dermatology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Poojary, Shital
Jaiswal, Saurabh
Shah, Kapisha Sunny
Bhalala, Krishna B
Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation
title Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation
title_full Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation
title_fullStr Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation
title_full_unstemmed Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation
title_short Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation
title_sort sisters with no pain, no tears: a report of a new variant of hereditary sensory and autonomic neuropathy (type ix) caused by a novel scn11a mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423241/
https://www.ncbi.nlm.nih.gov/pubmed/32831372
http://dx.doi.org/10.4103/ijd.IJD_416_18
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