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Yuan H.,Guangzhou KingMed Center for Clinical Laboratory Co. | Yuan H.,Guangzhou University | Huang L.,Sun Yat Sen University | Hu X.,Fairmont Preparatory Academy | And 5 more authors.
Orphanet Journal of Rare Diseases | Year: 2016

Background: Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations. Result: A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene. Using quantitative real-time PCR analysis, GRB10 was over-expressed, and, using enzyme-linked immunosorbent assays for IGF1 and IGF-binding protein-3 (IGFBP3), we found that IGF1 and IGFBP3 were low-expressed in this patient. Conclusions: We demonstrate that a combination of uncommon, rare and exceptional molecular defects related to the molecular bases of particular birth defects can be analyzed and diagnosed to potentially explain the observed variability in the combination of molecular defects. © 2016 The Author(s).

Wang D.,CAS Guangzhou Institute of Biomedicine and Health | Ge C.,Guangzhou KingMed Center for Clinical Laboratory Co. | Wang L.,CAS Guangzhou Institute of Biomedicine and Health | Xing X.,CAS Tianjin Institute of Industrial Biotechnology | Zeng L.,CAS Guangzhou Institute of Biomedicine and Health
RSC Advances | Year: 2015

Copper(ii) ions (Cu2+) at a high concentration are harmful to human health. Herein a simple and enzyme-free lateral flow biosensor for the rapid detection of Cu2+ based on copper(i) ion (Cu+)-catalyzed click chemistry has been constructed for the first time. In the presence of sodium ascorbate, Cu2+ was reduced to Cu+, which could catalyze the cycloaddition between azide-DNA and alkyne/biotin-DNA in aqueous solution. The ligated DNA product could then be immobilized onto the test zone of the lateral flow biosensor to form a red band which could be unambiguously read by the naked eye. Taking advantage of the optical properties of gold nanoparticles (AuNPs) and high efficiency and selectivity of Cu+-catalyzed click chemistry, this assay enabled the visual detection of Cu2+ as low as 100 nM with excellent specificity. In comparison with conventional methods, this biosensor is more simple to operate and more cost-effective to use, and therefore has great potential in point-of-care diagnosis and environmental monitoring. © The Royal Society of Chemistry 2015.

Yuan H.,Guangzhou KingMed Center for Clinical Laboratory Co. | Yuan H.,Guangzhou University | Meng Z.,Sun Yat Sen University | Zhang L.,Sun Yat Sen University | And 7 more authors.
Molecular Cytogenetics | Year: 2016

Background: Interstitial duplications distal to 15q13 are very rare. Case Presentation: Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips. A de novo 6.4 Mb interstitial duplication of 15q15.3q21.2 was detected by chromosomal microarray analysis. We compared our patient's clinical phenotypes with those of several individuals with overlapping duplications and several candidate genes responsible for the phenotypes were identified as well. Conclusion: The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies. © 2016 Yuan et al.

Yuan H.,Guangzhou KingMed Center for Clinical Laboratory Co. | Yuan H.,Guangzhou University | Zhang L.,Sun Yat Sen University | Chen M.,Guangzhou KingMed Center for Clinical Laboratory Co. | And 3 more authors.
Molecular Cytogenetics | Year: 2015

Background: Mowat-Wilson syndrome (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe intellectual disability, developmental delay and multiple congenital anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2 gene located on chromosome 2q22.3. At present, over 190 cases with mutations and deletions involving the ZEB2 gene have been reported, but triplication or duplication of reciprocal region of Mowat-Wilson syndrome has never been reported. Case Presentation: Here we report a 2-year-2-month-old boy carrying a de novo 2.9 Mb complex copy number gain at 2q22.3 involving triplication of ZEB2 gene. The boy is characterized by intrauterine growth retardation, hypotonia, cognitive impairment, multiple congenital anomalies and behavioral abnormalities. Conclusion: This case provides evidence that triplication of ZEB2 gene may be clinical significance and ZEB2 gene is likely to be a dosage sensitive gene. © 2015 Yuan et al.

Li J.,Sun Yat Sen University | Zhang C.,Sun Yat Sen University | Zhan Y.-X.,Guangzhou KingMed Center for Clinical Laboratory Co. | Feng S.-W.,Guangzhou Research Institute of Population and Family Planning | And 9 more authors.
Chinese Journal of Contemporary Neurology and Neurosurgery | Year: 2012

Objective: To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3) patients. Methods: SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among a SCA3 Chinese Han family which included 9 patients in four generations. One patient was the proband's fetus. The clinical characters were also documented and analyzed in this family. Results: There were 9 patients in this family with autosomal dominant inheritance feature. The initial symptoms in all affected members except the fetus were the gait disorders accompanied by dysphasia. Inability of upward gaze and bilateral Barbinski's signs were noted in proband. The onset age became earlier from generation to generation in this family which was around 50 year-old, 40 to 45 year-old, 28 year-old in generation I, II and III, respectively. CAG repeats in SCA3/ATXN3 allele were 77 in proband, as well as in the fetus, while the normal SCA3/ATXN3 allele CAG repeats were less than 44. Conclusion: SCA3 is the most frequent subtype of SCA in Asian. Unsteadiness of gait are first noted in most patients accompanied by other different symptoms and signs. Genetic anticipation was found in SCA3. But gene analysis revealed less dynamic mutation frequence in this family. Since there was no effective treatment in SCA3, hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.

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