Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9
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- 作者：Voraluck Phatarakijnirunda ; b ; p.voraluck@hotmail.com" class="auth_mail" title="E-mail the corresponding author ; Steven Mumma ; b ; smumm@dom.wustl.edu" class="auth_mail" title="E-mail the corresponding author ; William H. McAlisterc ; mcalisterw@mir.wustl.edu" class="auth_mail" title="E-mail the corresponding author ; Deborah V. Novackb ; Novack@wustl.edu" class="auth_mail" title="E-mail the corresponding author ; Deborah Wenkerta ; wenkert@i1.net" class="auth_mail" title="E-mail the corresponding author ; Karen L. Clementsa ; kclements@shrinenet.org" class="auth_mail" title="E-mail the corresponding author ; Michael P. Whytea ; b ; mwhyte@shrinenet.org" class="auth_mail" title="E-mail the corresponding author
- 关键词：Charcot arthropathy ; Joint hypermobility ; Mineral homeostasis ; Skeletal homeostasis
- 刊名：Bone
- 出版年：2016
- 出版时间：March 2016
- 年：2016
- 卷：84
- 期：Complete
- 页码：289-298
- 全文大小：1313 K
文摘
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Nav1.9 channelopathy causes congenital insensitivity to pain with hypermobility.
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The heterozygous missense mutation (c.3904C > T, p.Leu1302Phe) within SCN11A is novel.
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Despite fracturing, mineral and skeletal homeostasis is normal.
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Low-trauma fracturing suggests an uncharacterized defect in bone quality.
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Perhaps early diagnosis can prevent bone and joint destruction.