Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants
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三名具有嵌合体和种系 AFF3 变异的 KINSSHIP 综合征患者
DOI：
10.1111/cge.14292
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发表时间：
2023
影响因子：
3.5
通讯作者：
Uchiyama Yuri
中科院分区：
文献类型：
--
作者：
Inoue Yuta;Tsuchida Naomi;Okamoto Nobuhiko;Shuichi Shimakawa;Ohashi Kei;Saitoh Shinji;Ogawa Atsushi;Hamada Keisuke;Sakamoto Masamune;Miyake Noriko;Hamanaka Kohei;Fujita Atsushi;Koshimizu Eriko;Miyatake Satoko;Mizuguchi Takeshi;Ogata Kazuhiro;Uchiyama Yuri
AFF 3在2q11.2编码核转录激活因子AF 4/FMR 2家族成员3。AFF 3构成超延伸复合物Like 3，其在促进参与神经发生和发育的基因的表达中起作用。AFF 3中的降解决定子基序具有9个高度保守的氨基酸，其被E3泛素连接酶识别以诱导蛋白质降解。最近，AFF 3在该区域的错义变体和包括该区域的缺失的变体被鉴定并显示引起KINSSHIP综合征。在这项研究中，我们确定了两个新的和一个以前报道的错义变异的降解基因ofAFF 3在三个无关的日本患者。值得注意的是，这三种变体中的两种在检查的组织中表现出镶嵌现象。这项研究表明，嵌合体变异也导致KINSSHIP综合征，表现出各种表型。
AFF3at 2q11.2 encodes the nuclear transcriptional activator AF4/FMR2 Family Member 3. AFF3 constitutes super elongation complex like 3, which plays a role in promoting the expression of genes involved in neurogenesis and development. The degron motif in AFF3 with nine highly conserved amino acids is recognized by E3 ubiquitin ligase to induce protein degradation. Recently,AFF3missense variants in this region and variants featuring deletion including this region were identified and shown to cause KINSSHIP syndrome. In this study, we identified two novel and one previously reported missense variants in the degron ofAFF3in three unrelated Japanese patients. Notably, two of these three variants exhibited mosaicism in the examined tissues. This study suggests that mosaic variants also cause KINSSHIP syndrome, showing various phenotypes.
影响因子：
9.8
作者：
Voisin, Norine;Schnur, Rhonda E.;Reymond, Alexandre
通讯作者：
Reymond, Alexandre
三角胫骨伴有腓骨发育不全，与包含 LAF4 的 2q11.2 上的微缺失有关
影响因子：
3.5
作者：
E. Steichen‐Gersdorf;I. Gassner;A. Superti;R. Ullmann;S. Stricker;E. Klopocki;S. Mundlos
通讯作者：
S. Mundlos