Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva.
Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva.
复制标题
进行性骨化性纤维发育不良患者头蛋白基因的三种新突变的鉴定。
DOI：
10.1002/ajmg.1504
复制
发表时间：
2001
期刊：
影响因子：
--
通讯作者：
Gérard Lucotte
中科院分区：
文献类型：
--
作者：
O. Sémonin;Karine Fontaine;Christian Daviaud;Carmen Ayuso;Gérard Lucotte
我们报告了三个西班牙进行性骨化纤维发育不良（FOP）家族的头蛋白突变。这三个命题都有典型的FOP发现；在第一个和第三个家庭中，父母不受影响，而在第二个家庭中，父亲受到部分影响。通过测序检测noggin基因（NOG）突变，筛选3例阳性儿童及其亲本的DNA。测序结果显示，NOG基因第274位核苷酸发生G - to - C突变，编码肽水平上的G92R替换；第一个突变是从头开始的，在父母身上没有观察到相应的变化。在第二代中，核苷酸271处的G到T突变编码G91C替换，由部分受影响的父亲在相应的家族中遗传。测序结果显示，在第275个核苷酸上发生了从G到a的突变，编码了G92E的替换；第三个突变是从头开始的。所有这三个突变，以及已经报道的Delta42缺失，导致NOG基因265-282位置的部分改变，编码89-GGGGGA-94残基上潜在的n -肉豆蔻酰化位点。
We report noggin mutations in three Spanish families with fibrodysplasia ossificans progressiva (FOP). The three propositi have typical FOP findings; in the first and third families the parents are unaffected, while in the second family the father is partially affected. DNA of the three propositi and their parents was screened by sequencing for mutations in the noggin gene (NOG). Sequencing indicated a G to C mutation at nucleotide 274 of the NOG gene in the first propositus, encoding for the G92R substitution at the peptide level; this first mutation is de novo, the corresponding change not being observed in parents. In the second propositus, a G to T mutation at nucleotide 271 encodes for the G91C substitution, transmitted in the corresponding family by the partially affected father. In the third propositus, sequencing indicated a G to A mutation at nucleotide 275, encoding for the G92E substitution; this third mutation is de novo. All three mutations, as well as the Delta42 deletion already reported, resulted in the alteration of the portion of the NOG gene at positions 265-282, encoding for the potential N-myristoylation site at residues 89-GGGGGA-94.
影响因子：
158.5
作者：
Shafritz, AB;Shore, EM;Kaplan, FS
通讯作者：
Kaplan, FS
影响因子：
56.9
作者：
Brunet, LJ;McMahon, JA;Harland, RM
通讯作者：
Harland, RM
影响因子：
9.8
作者：
Feldman, G;Li, M;Shore, EM
通讯作者：
Shore, EM