Open AccessSisters 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,
Kapisha Sunny Shah,
Krishna Bhalala
Publication year - 2020
Publication title -
indian journal of dermatology/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 , pain sensation , autonomic neuropathy , genetics , sensory system , gene , 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.