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.
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.
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。
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