Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants.
Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants.
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DOI：
10.1186/s12920-021-01089-5
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发表时间：
2021-10-09
影响因子：
2.7
通讯作者：
Du A
中科院分区：
文献类型：
--
作者：
Chen C;Gao J;Lv Q;Xu C;Xia Y;Du A
Joubert综合征(JS)是一组少见的先天性疾病，以小脑棘发育不良、发育迟缓和视网膜功能障碍为特征。在此，我们报告了一例携带AHI1基因新变种的中国患者，并预测了受影响的Jouberin蛋白的3D结构。患者为男性，31岁，2岁时出现寻找玩具困难，5岁时出现夜盲，29岁时出现意向震颤和行走不平衡。在眼科检查中观察管状视野和视网膜色素沉着，在脑磁共振成像(MRI)上观察磨牙征。外显子全序列显示AHI1基因c.2105C>；T(p.T702M)和c.1330A>；T(p.I444F)存在两个复合杂合体。后者是一种新的突变。用I-TASSER和PYMOL预测了蛋白质的三维结构，分别显示了从功能β-Sheet和α-螺旋到非功能D-环的结构变化。报道了由AHI1基因T702M和I444F新变异引起的轻度JS。Jouberin蛋白的三维结构变化可能是JS发病机制的基础。
Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the AHI1 gene with mild JS, and the 3D structure of the affected Jouberin protein was also predicted. The patient was a 31-year-old male, who presented difficulty at finding toys at the age of 2 years, night blindness from age of 5 years, intention tremor and walking imbalance from 29 years of age. Tubular visual field and retina pigmentation were observed on ophthalmology examinations, as well as molar tooth sign on brain magnetic resonance imaging (MRI). Whole exome sequence revealed two compound heterozygous variants at c.2105C>T (p.T702M) and c.1330A>T (p.I444F) in AHI1 gene. The latter one was a novel mutation. The 3D protein structure was predicted using I-TASSER and PyMOL, showing structural changes from functional β-sheet and α-helix to non-functional D-loop, respectively. Mild JS due to novel variants at T702M and I444F in the AHI1 gene was reported. The 3D-structural changes in Jouberin protein might underlie the pathogenesis of JS.
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影响因子：
48
作者：
Romani, Marta;Micalizzi, Alessia;Valente, Enza Maria
通讯作者：
Valente, Enza Maria
影响因子：
1.9
作者：
Maria, BL;Hoang, KBN;Frerking, B
通讯作者：
Frerking, B
影响因子：
9.8
作者：
Dixon-Salazar, T;Silhavy, JL;Gleeson, JG
通讯作者：
Gleeson, JG
DOI：
10.1093/database/baaa055
发表时间：
2020-07-23
影响因子：
5.8
作者：
Guo, Xueqin;Chen, Fengzhen;Xu, Xun
通讯作者：
Xu, Xun
影响因子：
5.4
作者：
Jiang, XY;Hanna, Z;Jolicoeur, P
通讯作者：
Jolicoeur, P