Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
Am J Med Genet A. 2020 Apr;182(4):619-622. doi: 10.1002/ajmg.a.61510. Epub 2020 Feb 13.
MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder caused by nonrecurrent duplications of the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected individuals includes infantile hypotonia, severe intellectual disability, very poor-to-absent speech, progressive spasticity, seizures, and recurrent infections. The condition is 100% penetrant in males, with observed variability in phenotypic expression within and between families. Features of MDS in individuals of African descent are not well known. Here, we describe a male patient from Cameroon, with MDS caused by an inherited 610 kb microduplication of Xq28 encompassing the genes MECP2, IRAK1, L1CAM, and SLC6A8. This report supplements the public data on MDS and contributes by highlighting the phenotype of this condition in affected individuals of African descent.
MECP2 重复综合征（MDS；OMIM 300260）是一种 X 连锁神经发育障碍，由 Xq28 区域的非重复重复引起，涉及甲基-CpG 结合蛋白 2（MECP2；OMIM 300005）基因。受影响个体的核心表型包括婴儿期张力减退、严重智力残疾、几乎没有言语、进行性痉挛、癫痫发作和反复感染。该病症在男性中 100%存在外显率，在个体和家族之间存在表型表达的可变性。非洲裔个体 MDS 的特征尚不清楚。在这里，我们描述了一名来自喀麦隆的男性患者，其 MDS 是由 Xq28 上的一个遗传性 610kb 微重复引起的，该重复包含 MECP2、IRAK1、L1CAM 和 SLC6A8 基因。本报告补充了 MDS 的公共数据，并通过突出受影响的非洲裔个体的表型特征做出了贡献。
