Expanding the clinical picture of the MECP2 Duplication syndrome
Expanding the clinical picture of the MECP2 Duplication syndrome
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DOI：
10.1111/cge.12814
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发表时间：
2017-04-01
影响因子：
3.5
通讯作者：
Leonard, H.
中科院分区：
文献类型：
--
作者：
Lim, Z.;Downs, J.;Leonard, H.
具有两个或更多MECP2基因拷贝的个体，位于Xq28，具有共同的临床特征和独特的面部表型，称为MECP2重复综合征。我们已经检查了围产期特征，儿童早期发展和医疗合并症在这种疾病。国际Rett综合征表型数据库（InterRett）收集护理人员和临床医生关于Rett综合征和MECP2相关疾病患者的信息，作为数据来源。56例MECP2重复综合征（男性49例，女性7例）。确诊时的中位年龄为7.9岁（范围：1.2-37.6岁），诊断时的中位年龄为3.0岁（范围：3周-37岁）。不到三分之一（29%）的孩子学会了走路。34%的人语言能力下降，只有20%的人使用词语近似值或更好地确定词语。超过一半（55%）的儿童在出生后两年内曾因呼吸道感染住院。不到一半（44%）的人有癫痫发作，近一半的人每天都会发作。大多数人（89%）有胃肠问题，三分之一的人做了胃造口术。最近在MECP2重复的小鼠模型中证明了表型逆转，因此清楚地了解自然历史对于未来治疗策略的设计和实施至关重要。
Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have examined perinatal characteristics, early childhood development and medical co-morbidities in this disorder. The International Rett Syndrome Phenotype Database (InterRett), which collects information from caregivers and clinicians on individuals with Rett syndrome and MECP2 associated disorders, was used as the data source. Data were available on 56 cases (49 males and 7 females) with MECP2 Duplication syndrome. Median age at ascertainment was 7.9 years (range: 1.2-37.6 years) and at diagnosis 3.0 years (range: 3 weeks-37 years). Less than a third (29%) learned to walk. Speech deterioration was reported in 34% and only 20% used word approximations or better at ascertainment. Over half (55%) had been hospitalised for respiratory infections in the first 2 years of life. Just under half (44%) had seizures, occurring daily in nearly half of this group. The majority (89%) had gastrointestinal problems and a third had a gastrostomy. Following the recent demonstration of phenotype reversal in a mouse model of MECP2 Duplication, a clear understanding of the natural history is crucial to the design and implementation of future therapeutic strategies.