Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.
Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.
复制标题
新型Gli3变体引起重叠的Greig头孢菌合物综合征（GCPS）和Pallister-Hall综合征（PHS）表型，并具有胆囊和胰腺的发育作用。
DOI：
10.1186/s13000-017-0682-8
复制
发表时间：
2018-01-03
影响因子：
2.6
通讯作者：
Kitazawa S
中科院分区：
文献类型：
--
作者：
Ito S;Kitazawa R;Haraguchi R;Kondo T;Ouchi A;Ueda Y;Kitazawa S
GLI3是一种位于Hedgehog信号下游的锌指转录因子，激活因子和抑制因子之间的适当平衡对发育过程中各种器官的正常发育至关重要。GLI3基因不同区域的突变导致了几种先天性疾病，包括Greig头多指综合征(GCPS)和Pallister-Hall综合征(PHS)。在这里，我们描述了一个重叠的表型重叠的胆囊症和胰腺发育不全的病例，具有C.2155 C >； T新的致病变异体，可能是GLI3基因的错义点突变引起的，在蛋白水解性裂解位点上的p.P719S。虽然胆囊和胰腺发育不全在GLI3形态病中并不常见，但在这种情况下，激活因子和抑制因子之间的梯度或平衡的微小差异可能会阻碍复杂的空间和顺序刺猬信号，这是从内胚芽到胆囊和胰腺正常发育所必需的。
A proper balance between the activator and the repressor form of GLI3, a zinc-finger transcription factor downstream of hedgehog signaling, is essential for proper development of various organs during development. Mutations in different domains of the GLI3 gene underlie several congenital diseases including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). Here, we describe the case of an overlapped phenotype of these syndromes with agenesis of the gallbladder and the pancreas, bearing a c.2155 C > T novel likely pathogenic variant of GLI3 gene by missense point mutation causing p.P719S at the proteolytic cleavage site. Although agenesis of the gallbladder and the pancreas is uncommon in GLI3 morphopathy, a slight difference in the gradient or the balance between activator and repressor in this case may hinder sophisticated spatial and sequential hedgehog signaling that is essential for proper development of gallbladder and pancreas from endodermal buds.
登录
查看更多内容
影响因子：
2.7
作者：
Cao, Ting;Wang, Chengbing;Wang, Baolin
通讯作者：
Wang, Baolin
DOI：
10.1073/pnas.1011410108
发表时间：
2011-01-25
影响因子：
11.1
作者：
Qin, Jian;Lin, Yulian;Eggenschwiler, Jonathan T.
通讯作者：
Eggenschwiler, Jonathan T.
影响因子：
2.5
作者：
WALTERHOUSE, D;AHMED, M;IANNACCONE, P
通讯作者：
IANNACCONE, P
影响因子：
2.5
作者：
Li, Juan;Wang, Chengbing;Pan, Yong;Bai, Zengliang;Wang, Baolin
通讯作者：
Wang, Baolin
影响因子：
1.3
作者：
Motoyama, Jun
通讯作者：
Motoyama, Jun