Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome.
10.3760/cma.j.issn.1003-9406.2019.04.012
- VernacularTitle:一个Lubs X-连锁智力障碍综合征家系的分子诊断和功能研究
- Author:
Chen JIANG
1
;
Nan PAN
;
Weigang LYU
;
Ying PENG
;
Jing LIU
;
Ruolan GUO
;
Jiazhen CHANG
;
Desheng LIANG
;
Lingqian WU
Author Information
1. Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410008, China. Email: wulingqian@sklmg.edu.cn.
- Publication Type:Journal Article
- MeSH:
DNA Copy Number Variations;
Female;
Fragile X Mental Retardation Protein;
Humans;
Mental Retardation, X-Linked;
Methyl-CpG-Binding Protein 2;
Pedigree;
Pregnancy
- From:
Chinese Journal of Medical Genetics
2019;36(4):340-343
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a pedigree affected with X-linked mental retardation.
METHODS:The proband was subjected to chromosomal karyotyping, FMR1 mutation testing and copy number variation analysis with a single nucleotide polymorphism microarray (SNP array). His family members were subjected to multiplex ligation-dependent probe amplification (MLPA) assaying. Expression of genes within the repeated region were analyzed.
RESULTS:The proband had a normal chromosomal karyotype and normal number of CGG repeats within the FMR1 gene. SNP array identified a 370 kb duplication in Xq28 (ChrX: 153 027 633-153 398 515), which encompassed 14 genes including MECP2. The patient was diagnosed as Lubs X-linked mental retardation syndrome (MRXSL). MLPA confirmed the presence of copy number variation, its co-segregation with the disease, in addition with the carrier status of females. Genes from the duplicated region showed higher levels of expression (1.79 to 5.38 folds) within peripheral blood nucleated cells of the proband.
CONCLUSION:The patients were diagnosed with MRXSL. The expression of affected genes was up-regulated due to the duplication. Genetic counseling and prenatal diagnosis may be provided based on the results.
