Article
A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.
Brain : a journal of neurology - 1 Aug 2015
Nahorski Michael S, Al-Gazali Lihadh, Hertecant Jozef, Owen David J, Borner Georg H H, Chen Ya-Chun, Benn Caroline L, Carvalho Ofélia P, Shaikh Samiha S, Phelan Anne, Robinson Margaret S, Royle Stephen J, Woods C Geoffrey
Abstract excerpt
Congenital inability to feel pain is very rare but the identification of causative genes has yielded significant insights into pain pathways and also novel targets for pain treatment. We report a novel recessive disorder characterized by congenital insensitivity to pain, inability to feel touch, and cognitive delay. Affected individuals harboured a homozygous missense mutation in CLTCL1 encoding the CHC22...
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