ヌーナン症候群 [2013/06/09 18:07] (現在)
ライン 1: ライン 1:
 +[[mesh>​68009634|Noonan symdrome]] - MeSH
 +遺伝異型の一つで、小人症、翼状頸、下垂症、骨格奇形、隔離症、ホルモンの失調、停留睾丸、複数の心臓の異常(肺動脈弁狭窄が最も多い)、精神遅滞といった特徴をもつ。この表現型は女性にのみ起こる45番X染色体核型異常であるターナー症候群と類似している。ヌーナン症候群は正常核型をもつ男性にも女性にも起こる(46番XX、46番XY)。この症候群の表現型には複数の遺伝子(PTPN11,​ KRAS, SOS1, NF1, RAF1)での変異が関係している。最も共通しているのはPTPN11における変異である。ヌーナン症候群は、PTPN11における変異が原因であるレオパード症候群と症状が重なる。また、NF1の変異による神経線維腫性ヌーナン症候群とも症状が重なる。
 +A genetically heterogeneous,​ multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations,​ hypertelorism,​ hormonal imbalance, CRYPTORCHIDISM,​ multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
 +  *[[http://​​spotlight/​back_issues/​121/​|the matchmaker]] - ProteinSporlight
 +  *[[:​en:​Noonan syndrome]]