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.
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ABSTRACT:
SUBMITTER: Poojary S
PROVIDER: S-EPMC7423241 | biostudies-literature | 2020 Jul-Aug
REPOSITORIES: biostudies-literature
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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 S Jaiswal Saurabh S Shah Kapisha Sunny KS Bhalala Krishna B KB
Indian journal of dermatology 20200701 4
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 <i>SCN11A</i> gene and a distinct clinical phenotype. ...[more]
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