Chinese Journal of Medical Genetics is one of the journals of Chinese Medical Association. It was established in West China University of Medical Sciences in 1984 with the name “Heredity and Disease ”. In 1992, it was renamed Chinese Journal of Medical Genetics . The sponsor is Chinese Medical Association, and Sichuan University is the delegated unit for publication. It has an editorial board of China’s top scientists in the field, and has established an international advisory board in 2003. The aim of this journal is to report medical genetics, human genetics, and related researches in China.

The Chinese Journal of Medical Genetics is one of the journals under the Chinese Medical Association. It was established in 1984 at West China University of Medical Sciences, originally named 'Heredity and Disease'. In 1992, it was renamed the Chinese Journal of Medical Genetics. The journal is sponsored by the Chinese Medical Association, with Sichuan University as the designated publishing unit. Its editorial board consists of leading scientists in the field of medical genetics in China, and an international advisory board was established in 2003. The aim of this journal is to report on the latest developments in medical genetics, human genetics, and related research in China.

《Chinese Journal of Medical Genetics》是中国医学会旗下的期刊之一，创办于1984年，最初名为《遗传与疾病》，由西华大学医学科学学院主办。1992年更名为《Chinese Journal of Medical Genetics》。该期刊的赞助单位为中国医学会，出版单位为四川大学。期刊的编辑委员会由中国医学遗传学领域的顶尖科学家组成，并于2003年建立了国际顾问委员会。该期刊旨在报道中国在医学遗传学、人类遗传学及相关研究领域的最新进展。

Chinese Journal of Medical Genetics

Objective To study the correlation between DNA methylation patterns and gene expression in Down syndrome (DS). Methods Induced pluripotent stem cells (iPSCs) derived from normal controls and DS patients were subjected to whole genome bisulfite sequencing and differentially methylated region (DMR) screening. Statistical analysis for chromosomal and gene element distribution were carried out for DMR. Gene ontology (GO) and enrichment-based cluster analysis were used to explore the molecular function of differentially expressed genes. Results A total of 1569 DMR were identified in iPSCs derived from DS patients, for which the proportion of hypermethylation in promoter regions was significantly greater than that of the genebody. No DMR enrichment was noted on chromosome 21. Hypermethylation of the promoter and genebody was predicted to be inhibitory for gene expression. Functional clustering revealed the pathways related to neurodevelopmental, stem cell pluripotency and organ size regulation to be significantly correlated with differentially methylated genes. Conclusion Extensive and stochastic anomalies of genome-wide DNA methylation has been discovered in iPSCs derived from DS patients, for which the pattern and molecular regulation of methylation were significantly different from those of normal controls. Above findings suggested that DNA methylation pattern may play a vital role in both the pathogenesis of neurodevelopmental disorders and other phenotypic abnormalities during early embryonic development.

Wenbo Ma

Yanna Liu

Jingbin Yan

Zhonghua yixue yichuanxue zazhi

[Genome-wide analysis of aberrant DNA methylation patterns in iPSCs derived from patients with Down syndrome]

[唐氏综合征患者来源的诱导多能干细胞中异常DNA甲基化模式的基因组范围分析]

Objective To detect gene inversion in two pedigrees affected with Hemophilia A by using Nanopore sequencing technology. Methods Peripheral blood samples were taken from members of the two pedigrees. Following extraction of genome DNA, genetic variants of the carriers were detected by Nanopore sequencing and subjected to bioinformatic analysis. Results Nanopore sequencing has identified the niece of the proband of the pedigree 1 as carrier of Hemophilia A Inv22, and the mother of the proband of the pedigree 2 as carrier of Hemophilia A Inv1, which was consistent with clinical findings. Breakpoint sites in both pedigrees were accurately mapped. Statistical analysis of the sequencing results revealed a large number of variations in the carriers' genomes including deletions, duplications, insertions, inversions and translocations. Conclusion Nanopore sequencing can be used to analyze gene inversions associated with Hemophilia A, which also provided a powerful tool for the diagnosis of diseases caused by gene inversions.

Peng Dai

Yin Feng

Chaofeng Zhu

Xiangdong Kong

Analysis of gene inversion in Hemophilia A by Nanopore sequencing

通过纳米孔测序分析A型血友病中的基因倒位

OBJECTIVE To construct the differential expression profile of microRNA (miRNA) in plasma of patients with type 2 diabetes mellitus (T2DM) and explore the possibility of using miRNA as the target for diagnosis and treatment of T2DM. METHODS Agilent miRNA microarray was used to determine the expression profiles of miRNA in the plasma of patients with T2DM (FC> 2, P< 0.05). The result was verified by real-time quantitative PCR (RT-qPCR). Candidate miRNA was analyzed by bioinformatic tools. RESULTS In total 122 differentially expressed miRNAs were identified. Among these, 14 were selected by multi-source intersection screening, which included 5 up-regulated genes and 9 down regulated genes. RT-qPCR showed that the expression of hsa-miR-185-5p and hsa-miR-328-5p have significantly increased in T2DM patients (P< 0.05). Bioinformatic analysis suggested that these miRNAs may be involved in the pathogenesis of T2DM through insulin secretion and PI3K-AKT signaling pathway. CONCLUSION Differential expression of hsa-miR-185-5p and hsa-miR-328-5p in the plasma may be closely associated with the pathogenesis of T2DM.

Ying Ye

Xiaohua Liu

Yansheng Yan

Differential expression and bioinformatic analysis of microRNA in the plasma of patients with type 2 diabetes mellitus

2型糖尿病患者血浆中微小RNA的差异表达及生物信息学分析

OBJECTIVE To explore the genetic basis of a pedigree affected with Alagille syndrome (ALGS). METHODS Targeted capture and next generation sequencing was carried out for the proband. Candidate variants were verified by Sanger sequencing among his family members. Their pathogenicity of the variant was predicted with bioinformatic analysis. Clinical characteristics and genotype-phenotype correlation were analyzed. RESULTS The proband, his elder sister and mother were found to carry a heterozygous c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene, which may lead to premature termination of translation and a truncated protein with loss of function. The variant was unreported previously. The phenotypes of the proband (cholestasis, pulmonary artery stenosis and peculiar faces) have differed from those of his elder sister (cholestasis with pruritus, posterior embryonic ring of cornea) and mother (with no clinical manifestation). Cholestasis and peculiar face of the proband became insignificant with age. CONCLUSION The c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene probably underlay the ALGS in this pedigree with incomplete penetrance.

Huijing Wei

Pan Liu

Xiaokang Peng

Yarong Li

Fengyu Che

Li Tang

Xiaoguai Liu

Analysis of a novel JAG1 variant and clinical phenotype in a family affected with Alagille syndrome

家族性Alagille综合征中新型JAG1变异及临床表型的分析

Objective To summarize clinical manifestations and results of genetic testing in 12 children with Gitelman syndrome (GS). Methods Clinical data of the children was collected. Whole exome sequencing(WES) was carried out to screen potential variants of genomic DNA. Candidate variants were verified by Sanger sequencing. Results The patients have included 10 boys and 2 girls, whom were diagnosed at between 2.8 to 15.0 year old. Six patients were due to infections, 5 were due to short stature, and 1 was due to lower limb weakness. All patients were found to carry variants of SLC12A3 gene, which included 11 with compound heterozygous variants and 1 with homozygous variant. All of the 19 alleles of the SLC12A3 gene carried by the patients were delineated, which included 15 missense variants, 2 frameshift variants and 2 splice region variants. These variants were unreported previously, which included c.578_582dupCCACC (p.Asn195Profs*109), c.251C>T (p.Pro84Leu) and c.2843G>A (p.Trp948X). Conclusion The clinical symptoms of GS in children are atypical and often seen in older children. For children with occasional hypokalemia associated with growth failure, GS should be suspected. The majority of GS children carry two pathogenic variants of the SLC12A3 gene, mainly compound heterozygotes, among which p.Thr60Met is the most common one. The discovery of new variants has enriched the spectrum of SLC12A3 gene variants.

Qian Dong

Fuying Song

Guohong Li

Mu Du

Xiaobo Chen

Analysis of clinical features and genetic variants among 12 children with Gitelman syndrome

12例Gitelman综合征患儿的临床特征及基因变异分析

Objective To detect pathogenic variant in a child featuring Usher syndrome type II. Methods Peripheral blood samples of the child and his parents were collected for the analysis of variants of hearing impairment-related genes. The findings were verified in 100 individuals with normal hearing. Results The child was found to harbor compound heterozygous variants of the USH2A gene, namely c.8224-1G>C in intron 41 and c.5678C>G(p.Ser1893X) in exon 28, which were inherited respectively from his mother and father. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.8224-1G>C and c.5678C>G(p.Ser1893X) variants of USH2A gene were predicted to be pathogenic(PVS1+PM2+PM3). Conclusion The compound heterozygous variants c.8224-1G>C and c.5678C>G of the USH2A gene probably underlay the disease in this child. Above finding has enriched the spectrum of USH2A gene variants.

Kefeng Tang

Liyan Jiang

Juan Yao

Sheng Yang

Guosong Shen

Analysis of pathogenic variants of USH2A gene in a child with Usher syndrome type II

儿童Usher综合征II型USH2A基因致病变异的分析

Objective To explore the genetic basis for a pedigree affected with Alport syndrome. Methods Next generation sequencing and Sanger sequencing was applied to detect potential variants of the COL4A3, COL4A4 and COL4A5 genes among members from the pedigree and 100 unrelated healthy controls. Results The proband and his twin brother were found to carry two novel variants, namely c.4953G>A and c.4623C>A, of the COL4A4 gene, which were respectively inherited from her father and mother. The same variants were not detected among the 100 healthy controls and medical literature. Based on the guidelines of the American College of Medical Genetics and Genomics, both the c.4953G>A and c.4623C>A variants were predicted to be pathogenic (PVS1+PM2_supporting+PP1). Conclusion The c.4953G>A and c.4623C>A variants of the COLA4A gene probably underlay the Alport syndrome in this pedigree. Above finding has enriched the spectrum of COLA4A gene variants.

Lan Chen

Yiyan Zhang

Weisheng Lin

Analysis of genetic variant in a child with autosomal recessive Alport syndrome

儿童常染色体隐性Alport综合征遗传变异的分析

OBJECTIVE To explore the genetic basis of three families with recurrence of non-immune hydrops fetalis (NIHF) but negative result by copy number variation sequencing (CNV-seq). METHODS Amniotic fluid sample and/or abortive tissues of the fetuses were collected and subjected to CNV-seq analysis. Peripheral blood samples of the parents were also taken for trio whole exome sequencing (trio WES). RESULTS Fetus 1 was found to harbor heterozygous c.976G>T(p.Glu326*) variant of the SOX18 gene in addition with compound heterozygous variants c.844C>T(p.Arg282Trp) and c.9472+1G>A of the RYR1 gene. The three variants were all inherited from its parents and have been associated with the etiology of NIHF. Based on the American College of Medical Genetics and Genomics (ACMG) standards and guidelines, the c.976G>T variant of SOX18 gene and c.9472+1G>A of RYR1 gene were predicted to be pathogenic (PVS1+PM2+PP3+PP4, PVS1+PM2+PP3), and c.844C>T variant of RYR1 gene to be likely pathogenic (PM1+PM2+PP3). Fetus 2 was found to harbor compound heterozygous variants c.6682C>T(p.Gln2228*) and c.4373_4383del(p.Val1458Alafs*63) of the PIEZO1 gene. Both variants were also inherited from its parents and are associated with the etiology of NIHF. Based on ACMG standards and guidelines, both c.6682C>T and c.4373_4383del variants of PIEZO1 gene were predicted to be pathogenic (PVS1+PM2+PP4, PVS1+PM2). Fetus 3 was found to harbor compound heterozygous variants of the TTN gene c.29860G>C(p.Asp9954His) and c.21107A>T(p.Asp7036Val), which were respectively inherited from its parents. Both variants have been strongly associated with the phenotype, though the connection between the etiology of NIHF and variants of the TTN gene remains elusive. Based on ACMG standards and guidelines, the c.29860G>C and c.21107A>T variants of TTN gene were predicted to be likely pathogenic (PM1+PM2+PP3). CONCLUSION Trio WES can improve the diagnosis rate of NIHF with a negative result by CNV-seq. Considering the urgency of prenatal diagnosis, CNV-seq and trio WES should be carried out at the same time for fetuses with NIHF.

Tianyuan Zhang

Xiaofan Zhu

Zhi Gao

Wei Huang

[Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing].

[通过三联全外显子测序分析三例非免疫性胎儿水肿复发家族]

Objective To explore the influence of long non-coding (lnc) RNA Gm15645 on the podocyte injury in mice with diabetic nephropathy. Methods Male db/db mice (with Type 2 diabetes) with a genetic background of C57BLKs/J and db/m mice (healthy) born in littermates were randomly divided into three groups. db/db group was injected with lncRNAGm15645 shRNA lentivirus with a podocyte-specific marker NPHS2; db/db blank group was injected with saline, and db/db control group was injected withnon-sense lentivirus. The results of PAS staining, pathological changes of renal tissue, relative expression of GSK-3beta, and podocin expression were compared. Results lncRNAGm15 645 was overexpressed and podocin was down-regulated in the lentivirus overexpressed group. Mesangial cell proliferation, mesangial matrix hyperplasia, thickened basement membrane, widely fused foot process, and podocyte injury were observed by PAS staining. The expression of Gm15645 in the db/db group was significantly lower than that of the db/db blank group and db/db control group (P Conclusion lncRNAGm15645 may provide an early biomarker for the occurrence of podocyte injury in diabetic nephropathy. The mechanism may be related to the feedback regulation of GSK-3beta gene.

Huan Wang

Guanqiao You

Liqin Guo

Ke Xu

Yansheng Feng

[Influence of long non-coding RNA Gm15645 on the podocyte injury in diabetic nephropathy].

[长链非编码RNA Gm15645对糖尿病肾病足细胞损伤的影响]

Perlman syndrome is a rare autosomal recessive congenital overgrowth syndrome caused by pathogenic variants of the DIS3L2 gene at 2q37 region. Clinically this syndrome is characterized by polyhydramnios, macrosomia, distinctive facial appearance, and renal dysplasia. Prognosis of the disease is poor, and survivors usually have mental delay and a high risk of developing Wilms tumor. At present, the pathogenesis of this disease is still poorly understood. This article intends to provide a review for this disease.

ISSN	1003-9406
h-index	19

Publication Information	Publisher: Chinese Medical Journals Publishing House Co.Ltd，Publishing cycle: ，Journal Type: journal，Open Access Journals: No
Basic data	Year of publication: 1998，Proportion of original research papers: 0.00%，Self Citation Rate:N.A.， Gold OA Rate: 0.00%

Chinese Journal of Medical Genetics

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