课题组在Journal of Medical Genetics杂志上发表Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. Identification of the molecular etiology underlying EOS patients could provide valuable information for both clinical management and prenatal screening. In this study, we consecutively recruited a cohort of 447 Chinese patients and another cohort of 13 EOS patients from the United States to test the diagnostic yield and clinical impact of ES.
On September 5th, 2019, Dr. Nan Wu was invited to the annual meeting of 2019 International Consortium for Spinal Genetics, Development and Disease (ICSGDD; formerly ICSG and ICVAS), Stockholm, Sweden. He gave a key note lecture entitled “The genetic and molecular aspects of Early Onset Scoliosis (EOS)”. Dr Nan Wu paid a visit to National Genomics Infrastructure (NGI) of Sweden.
On May 28, Dr. Hakon Hakonarson, the director of Center for Applied Genomics and professor of Pediatrics, Children’s Hospital of Philadelphia (CHOP), USA, paid a visit to Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH) and gave a lecture entitled “Integrative Genomics Discoveries and Development at centre for applied genomics at CHOP” at the 44nd PUMCH Academic Salon Series in scholarism auditorium of PUMCH.
On April 15, Dr. Brendan Lee, the director of Molecular and Human Genetics and director of Center for Skeletal Medicine and Biology, Baylor College of Medicine, Texas, USA，and Dr. Sau Wai Cheung, professor of Molecular and Human Genetics, Baylor College of Medicine, Texas, USA, paid a visit to Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH).
课题组于Genetics in Medicine杂志发表TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
TACS is a clinically distinguishable entity with consistent clinically measurable endophenotypes. The type and distribution of vertebral column abnormalities in TBX6/Tbx6 compound inheritance implicate subtle perturbations in gene dosage as a cause of spine developmental birth defects responsible for about 10% of CS.
课题组于Human Molecular Genetics杂志上发表TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice
Congenital vertebral malformations (CVM) are associated with human TBX6 compound inheritance which combines a rare null allele and a common hypomorphic allele at the TBX6 locus.
On September 2, Dr. Shiro Ikegawa, the director of laboratory of Bone and Joint Diseases, RIKEN center for Intergrative Medical Sciences, Tokyo, Japan, paid a visit to Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH) and gave a lecture at the PUMCH Academic Salon Series in scholarism auditorium of PUMCH.
课题组于Human Genetics 杂志发表The Coexistence of Copy Number Variations (CNVs) and Single Nucleotide Polymorphisms (SNPs) at a Locus can Result in Distorted Calculations of the Significance in Associating SNPs to Disease
With the recent advance in genome-wide association studies (GWAS), disease-associated single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) have been extensively reported. Accordingly, the issue of incorrect identification of recombination events that can induce the distortion of multi-allelic or hemizygous variants has received more attention.
课题组于Journal of Medical Genetics杂志发表Perturbations of BMP/TGF-β and VEGF/VEGFR signaling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
Brain arteriovenous malformations (BAVM) represent a congenital anomaly of the cerebral vessels with a prevalence of 10–18/100 000. BAVM is the leading aetiology of intracranial haemorrhage in children. Our objective was to identify gene variants potentially contributing to disease and to better define the molecular aetiology underlying non-syndromic sporadic BAVM.
On May 5th, 2018, DISCO study group held 2018 Forum for Genetics and Epigenetics of Skeletal Associated Disorders in Beijing, China. Professor Guixing Qiu, a senior member of the Chinese Academy of Engineering was the chairperson of the 2018 Forum for Genetics and Epigenetics of Skeletal Associated Disorders. Dr. Zhihong Wu, Dr. Nan Wu and Dr. Jianzhong Su were co-executive chairpersons of this forum. The forum lasted for 2 days.
The single SNP analysis showed allele frequency of rs2289292 (exon 8, the only tagging SNP) and rs3809624 (5’untranslated region) demonstrated significant difference between CS cases and controls (P = 0.017 and P = 0.033)，which suggests genetic variants of TBX6 gene is associated with CS.
GPR126 has been identified to be associated with AIS (Adolescent Idiopathic Scoliosis) in different populations, but data on the northern Chinese population are unavailable. Additionally, it is important to know the exact clinical phenotypes associated with specific genetic polymorphisms.
On February 9th, 2017, Dr. Nan Wu was invited to give an oral presentation at the annual meeting of International Rare Diseases Research Consortium (IRDiRC) at Paris, France. He introduced our findings about TBX6 gene discovery in world-wide congenital scoliosis patient cohorts.
Professoer Zhihong Wu was invited to the 60th year anniversary of Chinese Academy of Medical Sciences (CAMS). His introduced the DISCO project as well as our previously work focusing on scoliosis phenotype. On the other hand, he also described our contribution to the development of genetic diagnostic strategies of scoliosis
This study is the first proteomic research to delineate the total and differential serum proteins in TBX6 haploinsufficiency-caused CS. The proteins discovered in this experiment may serve as potential biomarkers for CS, and lipid metabolism might play important roles in the pathogenesis of CS.