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タイトル :Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High Affinity Receptor for Nerve Growth Factor
著者 :Mardy, Sek
Miura, Yuichi
Endo, Fumio
Matsuda, Ichiro
Sztriha, László
Frossard, Philippe
Moosa, Allie
Ismail, Essam A.R.
Macaya, Alfons
Andria, Generoso
Toscano, Ennio
Gibson, William
Graham, Gail E.
Indo, Yasuhiro
刊行年月日 :1999-6
収録雑誌名 :American Journal of Human Genetics
巻 :64
号 :6
開始ページ :1570
終了ページ :1579
要約(Abstract) :Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. Human TRKA encodes a high-affinity tyrosine kinase receptor for nerve growth factor (NGF), a member of the neurotrophin family that induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. We have recently demonstrated that TRKA is responsible for CIPA by identifying three mutations in a region encoding the intracellular tyrosine kinase domain of TRKA in one Ecuadorian and three Japanese families. We have developed a comprehensive strategy to screen for TRKA mutations, on the basis of the gene's structure and organization. Here we report 11 novel mutations, in seven affected families. These are six missense mutations, two frameshift mutations, one nonsense mutation, and two splice-site mutations. Mendelian inheritance of the mutations is confirmed in six families for which parent samples are available. Two mutations are linked, on the same chromosome, to Arg85Ser and to His598Tyr;Gly607Val, hence, they probably represent double and triple mutations. The mutations are distributed in an extracellular domain, involved in NGF binding, as well as the intracellular signal-transduction domain. These data suggest that TRKA defects cause CIPA in various ethnic groups.
収録種別 :雑誌掲載論文
出版社(者) :Elsevier
URI :http://hdl.handle.net/2298/9141
関連 :http://www.ajhg.org/
このアイテムの引用には次の識別子を使用してください: http://hdl.handle.net/2298/9141