Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
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了解 ASXL 相关疾病的表型谱：十个病例和文献综述。
DOI：
10.1002/ajmg.a.62156
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发表时间：
2021-06
期刊：
影响因子：
--
通讯作者：
Marsh ED
中科院分区：
文献类型：
--
作者：
Cuddapah VA;Dubbs HA;Adang L;Kugler SL;McCormick EM;Zolkipli-Cunningham Z;Ortiz-González XR;McCormack S;Zackai E;Licht DJ;Falk MJ;Marsh ED
在过去的十年中，已发现ASXL基因家族的所有成员ASXL 1、ASXL 2和ASXL 3中的致病性变体导致临床上不同但重叠的综合征。Bohring-Opitz综合征（BOPS）最初被描述为一种临床综合征，后来发现与ASXL 1中的致病性变体有关。这种综合征的特征是发育迟缓、小头畸形、特征性面容、张力减退和进食困难。随后，发现ASXL 2中的致病性变体导致Shashi-Pena综合征（SHAPNS），ASXL 3中的致病性变体导致Bainbridge-Ropers综合征（BRPS）。虽然SHAPNS和BRPS与BOPS共享许多核心功能，但似乎也出现了明显的差异。在这里，我们提出了5例BOPS，1例SHAPNS，4例BRPS。通过将我们的队列添加到先前发表的有限数量的患者中，我们回顾了将它们结合在一起的ASXL相关疾病的重叠特征，同时关注使每种神经发育综合征独特的特征。这将有助于诊断这些重叠的条件，并允许临床医生更全面地咨询受影响的家庭。
Over the past decade, pathogenic variants in all members of the ASXL family of genes, ASXL1, ASXL2, and ASXL3, have been found to lead to clinically distinct but overlapping syndromes. Bohring-Opitz Syndrome (BOPS) was first described as a clinical syndrome and later found to be associated with pathogenic variants in ASXL1. This syndrome is characterized by developmental delay, microcephaly, characteristic facies, hypotonia, and feeding difficulties. Subsequently, pathogenic variants in ASXL2 were found to lead to Shashi-Pena Syndrome (SHAPNS) and in ASXL3 to lead to Bainbridge-Ropers Syndrome (BRPS). While SHAPNS and BRPS share many core features with BOPS, there also seem to be emerging clear differences. Here, we present 5 cases of BOPS, 1 case of SHAPNS, and 4 cases of BRPS. By adding our cohort to the limited number of previously published patients, we review the overlapping features of ASXL-related diseases that bind them together, while focusing on the characteristics that make each neurodevelopmental syndrome unique. This will assist in diagnosis of these overlapping conditions and allow clinicians to more comprehensively counsel affected families.
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影响因子：
4.5
作者：
Farber CR;Bennett BJ;Orozco L;Zou W;Lira A;Kostem E;Kang HM;Furlotte N;Berberyan A;Ghazalpour A;Suwanwela J;Drake TA;Eskin E;Wang QT;Teitelbaum SL;Lusis AJ
通讯作者：
Lusis AJ
多梳抑制复合物 2 在选定靶点上的结合需要额外的性梳状 2。
影响因子：
3.7
作者：
Lai HL;Wang QT
通讯作者：
Wang QT
影响因子：
50.3
作者：
Abdel-Wahab O;Adli M;LaFave LM;Gao J;Hricik T;Shih AH;Pandey S;Patel JP;Chung YR;Koche R;Perna F;Zhao X;Taylor JE;Park CY;Carroll M;Melnick A;Nimer SD;Jaffe JD;Aifantis I;Bernstein BE;Levine RL
通讯作者：
Levine RL
DOI：
10.3760/cma.j.issn.0578-1310.2018.02.013
发表时间：
2018-02-02
期刊：
Zhonghua er ke za zhi = Chinese journal of pediatrics
影响因子：
--
作者：
Zhang, R;He, X H;Yang, X H
通讯作者：
Yang, X H
影响因子：
8.8
作者：
Katoh M
通讯作者：
Katoh M