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无痛无泪的姐妹：一例由新型SCN11A突变引起的遗传性感觉和自主神经病变（IX型）新变体报告

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.

作者信息

Poojary Shital, Jaiswal Saurabh, Shah Kapisha Sunny, Bhalala Krishna B

机构信息

Department of Dermatology, Venereology and Leprology, K. J. Somaiya Medical College, Mumbai, Maharashtra, India.

出版信息

Indian J Dermatol. 2020 Jul-Aug;65(4):299-303. doi: 10.4103/ijd.IJD_416_18.

DOI:10.4103/ijd.IJD_416_18
PMID:32831372
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7423241/
Abstract

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 gene and a distinct clinical phenotype.

摘要

儿童无痛觉涉及一组罕见的遗传性疾病；遗传性感觉和自主神经病变（HSAN）。迄今为止，根据临床表型和潜在基因突变，已描述了八种类型的HSAN。我们报告了两名（印度裔）兄弟姐妹中一种新的HSAN变异型（IX型），其基因发生了新的突变且具有独特的临床表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/742d/7423241/38ea2ce38198/IJD-65-299-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/742d/7423241/38ea2ce38198/IJD-65-299-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/742d/7423241/38ea2ce38198/IJD-65-299-g001.jpg

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.基于结构的人类电压门控钠通道疾病相关突变评估
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