A nationwide survey of Schaaf-Yang syndrome in Japan
A nationwide survey of Schaaf-Yang syndrome in Japan
复制标题
日本全国范围内的 Schaaf-Yang 综合征调查
DOI：
10.1038/s10038-022-01089-y
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发表时间：
2022
影响因子：
3.5
通讯作者：
Saitoh Shinji
中科院分区：
文献类型：
--
作者：
Negishi Yutaka;Kurosawa Kenji;Takano Kyoko;Matsubara Keiko;Nishiyama Takeshi;Saitoh Shinji
shaaf - yang综合征（SYS）是一种以发育迟缓、自闭症谱系障碍和先天性关节挛缩为特征的先天性疾病。在本研究中，对日本人群进行了一项全国性的基于流行病学问卷的调查，以确定患者人数、临床特征和遗传信息。在初步调查中，我们调查了SYS患者的数量。在二次调查中，我们获得并分析了SYS患者的详细临床和遗传信息。这项调查收集了25名基因确诊患者的信息。主要临床症状为新生儿张力过低（96%）、婴儿期吸力差（82%）、发育迟缓（100%）、关节挛缩（83%）。其他主要症状和表现包括特征性面部特征（100%）、小手（92%）、眼睛异常（92%）和身材矮小（79%）。根据收集到的日常生活活动信息，71%的患者无法行走，而67%、71%和81%的患者在进食、如厕和洗澡方面分别需要全面帮助。在遗传方面，21例患者的遗传分析显示，14例（67%）患者携带黑色素瘤抗原L2（MAGEL2）基因从头截断变异，7例（33%）患者从其父亲遗传了截断变异。本调查揭示了日本SYS患者的临床和遗传特征。大多数SYS患者在日常生活的许多方面都需要帮助，并且有一定数量的印迹障碍携带者。
Schaaf-Yang syndrome (SYS) is a congenital disorder characterized by developmental delay, autism spectrum disorder and congenital joint contractures. In this study, a nationwide epidemiological questionnaire-based survey of SYS in the Japanese population was conducted to establish patient numbers, clinical features and genetic information. In the primary survey, we investigated the number of SYS patients. In the secondary survey, we obtained and analyzed detailed clinical and genetic information of SYS patients. This survey collected information on 25 genetically-confirmed patients. The major clinical symptoms included neonatal hypotonia (96% of the patients), poor suck in infancy (82%), developmental delay (100%) and joint contractures (83%). Other main symptoms and findings included characteristic facial features (100%), small hands (92%), eye abnormalities (92%) and short stature (79%). Based on the information collected on activities of daily living, 71% of patients were unable to walk, while 67%, 71%, and 81% of patients required full assistance with eating, toileting and bathing, respectively. Regarding inheritability, the genetic analysis of 21 patients revealed that 14 (67%) carried de novo truncating variants in themelanoma antigen L2(MAGEL2) gene and seven (33%) had inherited truncating variants from their fathers who were carriers. This survey revealed the clinical and genetic features in Japanese SYS patients. The majority of SYS patients required assistance in many aspects of daily living, and there were a certain number of carriers of the imprinting disorder.
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DOI：
10.1042/bcj20160616
发表时间：
2017-06-16
期刊：
The Biochemical journal
影响因子：
--
作者：
Tacer KF;Potts PR
通讯作者：
Potts PR
DOI：
10.1002/ajmg.a.40650
发表时间：
2018-12
期刊：
American journal of medical genetics. Part A
影响因子：
--
作者：
McCarthy J;Lupo PJ;Kovar E;Rech M;Bostwick B;Scott D;Kraft K;Roscioli T;Charrow J;Schrier Vergano SA;Lose E;Smiegel R;Lacassie Y;Schaaf CP
通讯作者：
Schaaf CP
影响因子：
3.7
作者：
Marbach F;Elgizouli M;Rech M;Beygo J;Erger F;Velmans C;Stumpel CTRM;Stegmann APA;Beck-Wödl S;Gillessen-Kaesbach G;Horsthemke B;Schaaf CP;Kuechler A
通讯作者：
Kuechler A
影响因子：
6
作者：
Saitoh S
通讯作者：
Saitoh S
DOI：
10.1038/ejhg.2017.106
发表时间：
2017-09
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Adachi T;Kawamura K;Furusawa Y;Nishizaki Y;Imanishi N;Umehara S;Izumi K;Suematsu M
通讯作者：
Suematsu M