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 | Zendy

Shital Poojary | Zendy; Saurabh Jaiswal | Zendy; KapishaSunny Shah | Zendy; KrishnaB Bhalala | Zendy

Open Access

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

Author(s) -

Shital Poojary,

Saurabh Jaiswal,

KapishaSunny Shah,

KrishnaB Bhalala

Publication year - 2020

Publication title -

indian journal of dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.395

H-Index - 36

eISSN - 1998-3611

pISSN - 0019-5154

DOI - 10.4103/ijd.ijd_416_18

Subject(s) - medicine , phenotype , mutation , sensation , clinical phenotype , autonomic neuropathy , pain sensation , gene , sensory system , genetics , neuroscience , anesthesia , biology , cell culture , neuroblastoma

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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