Jin Zhijuan, Yu Li, Geng Juan, Wang Jian, Jin Xingming, Huang Hong
MOE - Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, PR China; Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.
Institutes of Biomedical Sciences, Fudan University, Shanghai 200433, PR China.
Gene. 2015 Aug 1;567(1):98-102. doi: 10.1016/j.gene.2015.04.083. Epub 2015 May 6.
We present array comparative genomic hybridization (aCGH) characterization of a novel Xq21.1-25 duplication in a 2-year-old girl with facial dysmorphism, mental retardation and short stature. Analysis of aCGH results revealed a 47,232kb duplication region that harbored 231 RefSeq genes, including 32 OMIM genes. Ten genes (i.e., ZNF711, SRPX2, RAB40AL, MID2, ACSL4, PAK3, UBE2A, UPF3B, CUL4B, and GRIA3) in the duplication interval have been associated with mental retardation. We discuss the genotype-phenotype correlation in this case. Our case provides evidence for an association of mental retardation with X chromosome duplication.
我们展示了对一名患有面部畸形、智力发育迟缓及身材矮小的2岁女童的新型Xq21.1 - 25重复进行的阵列比较基因组杂交（aCGH）特征分析。对aCGH结果的分析揭示了一个47232kb的重复区域，该区域包含231个RefSeq基因，其中包括32个OMIM基因。重复区间内的10个基因（即ZNF711、SRPX2、RAB40AL、MID2、ACSL4、PAK3、UBE2A、UPF3B、CUL4B和GRIA3）与智力发育迟缓有关。我们讨论了该病例中的基因型 - 表型相关性。我们的病例为智力发育迟缓与X染色体重复之间的关联提供了证据。
