The adult phenotype of Schaaf-Yang syndrome.
The adult phenotype of Schaaf-Yang syndrome.
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DOI：
10.1186/s13023-020-01557-8
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发表时间：
2020-10-19
影响因子：
3.7
通讯作者：
Kuechler A
中科院分区：
文献类型：
--
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
MAGEL2相关Schaaf-Yang综合征（SHFYNG, OMIM #615547, ORPHA: 398069）于2013年被发现，是一种罕见的疾病，由MAGEL2父本拷贝的截断变异引起，该变异位于15q11.2q13的印迹区域。儿童期SHFYNG的表型与Prader-Willi综合征（PWS, OMIM #176270）部分重叠。虽然最近发表了大量患有SHFYNG的年轻个体，但成年期的表型尚未得到很好的确定。我们招募了7名年龄在18 - 36岁之间的成年SHFYNG患者，收集了他们的临床资料，包括饮食习惯、睡眠、行为、个人自主性、精神异常和其他医疗状况，以及儿童时期各自的表型信息。在我们的小队列中，我们确定了一系列共同特征，如睡眠不安、活动不足、社交回避和焦虑，但也注意到个人自主性和技能水平上的巨大差异。行为问题很常见，大多数人表现出体重增加和寻找食物的行为，以及轻度智力残疾或边缘智力功能。大多数人报告了儿童期SHFYNG的典型症状。我们的研究结果表明，SHFYNG成人的功能能力和社会参与具有很高的变异性。值得注意的是，我们的队列中肥胖的高发率，一些护理人员主要担心无法控制的食物摄入。PWS和SHFYNG在成年期的表型可能比儿童期的表型更难辨别。因此，如果PWS检测呈阴性，则应考虑对疑似PWS诊断的成人进行SHFYNG分子基因检测。
MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted region on 15q11.2q13. The phenotype of SHFYNG in childhood partially overlaps with that of the well-established Prader–Willi syndrome (PWS, OMIM #176270). While larger numbers of younger individuals with SHFYNG have been recently published, the phenotype in adulthood is not well established. We recruited 7 adult individuals (aged 18 to 36) with molecularly confirmed SHFYNG and collected data regarding the clinical profile including eating habits, sleep, behavior, personal autonomy, psychiatric abnormalities and other medical conditions, as well as information about the respective phenotypes in childhood. Within our small cohort, we identified a range of common features, such as disturbed sleep, hypoactivity, social withdrawal and anxiety, but also noted considerable differences at the level of personal autonomy and skills. Behavioral problems were frequent, and a majority of individuals displayed weight gain and food-seeking behavior, along with mild intellectual disability or borderline intellectual function. Classical symptoms of SHFYNG in childhood were reported for most individuals. Our findings indicate a high variability of the functional abilities and social participation of adults with SHFYNG. A high prevalence of obesity within our cohort was notable, and uncontrollable food intake was a major concern for some caregivers. The phenotypes of PWS and SHFYNG in adulthood might be more difficult to discern than the phenotypes in childhood. Molecular genetic testing for SHFYNG should therefore be considered in adults with the suspected diagnosis of PWS, if testing for PWS has been negative.
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影响因子：
7.8
作者：
Shriki-Tal, L.;Avrahamy, H.;Benarroch, F.
通讯作者：
Benarroch, F.
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
DOI：
10.3390/diseases4010002
发表时间：
2016-01-13
期刊：
Diseases (Basel, Switzerland)
影响因子：
--
作者：
Fountain MD;Schaaf CP
通讯作者：
Schaaf CP
影响因子：
17.3
作者：
CLARKE, DJ;WATERS, J;CORBETT, JA
通讯作者：
CORBETT, JA
DOI：
10.1038/gim.2016.53
发表时间：
2017-01
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
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作者：
通讯作者：
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