División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Jalisco, Mexico.
Gene. 2013 Jul 25;524(2):381-5. doi: 10.1016/j.gene.2013.04.029. Epub 2013 Apr 29.
Xq28 duplication, including the MECP2 gene, is among the most frequently identified Xq subtelomeric rearrangements. The resulting clinical phenotype is named Lubs syndrome and mainly consists of intellectual disability, congenital hypotonia, absent speech, recurrent infections, and seizures. Here we report a Mexican male patient carrying a supernumerary marker chromosome with de novo Xq28 gain. By MLPA, duplication of MECP2, GDI1, and SLC6A8 was found and a subsequent a-CGH analysis demonstrated that the gain spanned ~2.1Mb. Despite gain of the MECP2 gene, the features of this patient do not evoke Lubs syndrome. Probably the mosaicism of the supernumerary marker chromosome is modifying the phenotype in this patient.
Xq28 重复，包括 MECP2 基因，是最常发现的 Xq 亚端粒重排之一。由此产生的临床表型命名为 Lubs 综合征，主要包括智力残疾、先天性张力减退、无言语、反复感染和癫痫发作。在这里，我们报告了一名携带额外标记染色体的墨西哥男性患者，该染色体存在 Xq28 获得性重复。通过 MLPA，发现 MECP2、GDI1 和 SLC6A8 基因的重复，随后的 a-CGH 分析表明，增益跨越约 2.1Mb。尽管 MECP2 基因获得，但该患者的特征并不引起 Lubs 综合征。可能额外标记染色体的嵌合性正在改变该患者的表型。
