A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation

Zhijuan Jin; Li Yu; Juan Geng; Jian Wang; Xingming Jin; Hong Huang

doi:10.1016/j.gene.2015.04.083

A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation

Gene. 2015 Aug 1;567(1):98-102. doi: 10.1016/j.gene.2015.04.083. Epub 2015 May 6.

Authors

Zhijuan Jin¹, Li Yu², Juan Geng³, Jian Wang³, Xingming Jin⁴, Hong Huang⁵

Affiliations

¹ 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.
² Institutes of Biomedical Sciences, Fudan University, Shanghai 200433, PR China.
³ Institutes of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.
⁴ Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.
⁵ MOE - Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, PR China. Electronic address: huanghong@smhb.gov.cn.

PMID: 25956375
DOI: 10.1016/j.gene.2015.04.083

Abstract

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.

Keywords: Array CGH; Duplication; Mental retardation; Xq21.1–25.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child, Preschool
Chromosome Duplication*
Chromosomes, Human, X*
Comparative Genomic Hybridization
Female
Humans
Intellectual Disability / genetics*
Polymerase Chain Reaction