中华医学遗传学杂志最新文献_第10页

[Genetic analysis of a fetus with Rhizomelic skeletal dysplasia]. [Rhizomelic骨骼发育不良胎儿的遗传分析]。

中华医学遗传学杂志 Pub Date : 2024-07-10 DOI: 10.3760/cma.j.cn511374-20230523-00309

Yang Ding, Ting Wang, Jingjing Xiang

{"title":"[Genetic analysis of a fetus with Rhizomelic skeletal dysplasia].","authors":"Yang Ding, Ting Wang, Jingjing Xiang","doi":"10.3760/cma.j.cn511374-20230523-00309","DOIUrl":"10.3760/cma.j.cn511374-20230523-00309","url":null,"abstract":"Objective: To explore the clinical features and genetic basis for a fetus featuring Rhizomelic skeletal dysplasia.Methods: A fetus diagnosed at the Reproductive and Genetic Center of Suzhou Municipal Hospital in November 2020 was selected as the study subject. Whole exome sequencing (WES) was carried out for the fetus and its parents. Candidate variants were verified by Sanger sequencing. Peripheral blood smears of both parents were also examined.Results: The fetus was found to have a small chest and short limbs, which had suggested skeletal dysplasia. Genetic testing revealed that the fetus has harbored compound heterozygous variants of the LBR gene, including a paternally derived c.1687+1G>A and a maternally derived c.1757G>A (p.Arg586His). The blood smear of the father showed Pelger-Huet anomaly with hyposegmentation of neutrophil nuclei, while the neutrophils of the mother appeared to be normal. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP), the c.1757G>A (p.Arg586His) variant was classified as likely pathogenic (PM3_Strong+PM2_Supporting+PP3), and so was the c.1687+1G>A variant (PVS1-Moderate+PM3+PM2-Supporting+PP4).Conclusion: The compound heterozygous variants of the LBR gene probably underlay the pathogenesis of skeletal dysplasia in this fetus.","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 7","pages":"844-848"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Analysis of a Chinese pedigree with Bw subtype due to a novel variant of α-1,3-N-acetylgalactosaminyltransferase gene]. [α-1,3-N-乙酰半乳糖氨基转移酶基因新型变异导致的 Bw 亚型中国血统分析]。

中华医学遗传学杂志 Pub Date : 2024-07-10 DOI: 10.3760/cma.j.cn511374-20230605-00338

Wen Wu, Xinping Zhang, Chao Liu, Xiangyan Huang

{"title":"[Analysis of a Chinese pedigree with Bw subtype due to a novel variant of α-1,3-N-acetylgalactosaminyltransferase gene].","authors":"Wen Wu, Xinping Zhang, Chao Liu, Xiangyan Huang","doi":"10.3760/cma.j.cn511374-20230605-00338","DOIUrl":"10.3760/cma.j.cn511374-20230605-00338","url":null,"abstract":"Objective: To explore the serological characteristics and genetic variant in a Chinese pedigree with Bw subtype.Methods: A 32-year-old female proband who had undergone prenatal examination on December 10, 2020 at the 960th Hospital of the PLA Joint Logistics Support Force and five members from her pedigree were selected as the study subjects. Peripheral blood samples were collected and subjected to ABO blood group phenotyping with serological methods and ABO blood group genotyping with fluorescent PCR. Genetic testing and haplotype analysis were carried out by direct sequencing of the entire coding region of the ABO gene in the proband and cloned sequencing of exons 1-7.Results: The blood type serology of the proband showed Bw, and her ABO blood type genotype determined by fluorescence PCR was B/O. The direct sequencing results showed that the proband had matched the ABO*O.01.01/ABO*B.01 genotype and carried a c.1A>G variant. Cloned sequencing has confirmed the c.1A>G variant to have occurred in the ABO*B.01 allele. Family analysis revealed that the mother of the proband had an O blood type, her husband had a B phenotype, and her three children had a normal B blood type. DNA sequencing showed that the two sons of the proband had a genotype of ABO*B.01 and c.1A>G/ABO*B.01. The daughter of the proband was ABO*O.01.01/ABO*B.01, whilst her mother was ABO*O.01.01/ABO *O.01.02. The novel c.1A>G variant sequence has been registered with the database with a number MZ076785 1.Conclusion: The novel c.1A>G variant of exon 1 of α- 1,3 galactose aminotransferase gene probably underlay the reduced expression of B antigen in this pedigree.","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 7","pages":"858-861"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Identification and prenatal diagnosis for a novel NIPBL variant in a fetus with Cornelia de Lange syndrome]. [在一名患有科尼莉亚-德-朗格综合征的胎儿身上发现新型 NIPBL 变体并进行产前诊断]。

Chinese Journal of Medical Genetics Pub Date : 2024-07-10 DOI: 10.3760/cma.j.cn511374-20230517-00294

Yan Zhao, Shan Shan, Kaihua Zhang, Hua Jin, Fei Hou, Luquan Cao

{"title":"[Identification and prenatal diagnosis for a novel NIPBL variant in a fetus with Cornelia de Lange syndrome].","authors":"Yan Zhao, Shan Shan, Kaihua Zhang, Hua Jin, Fei Hou, Luquan Cao","doi":"10.3760/cma.j.cn511374-20230517-00294","DOIUrl":"10.3760/cma.j.cn511374-20230517-00294","url":null,"abstract":"Objective: To explore the genetic basis for a fetus with nuchal cystic hygroma identified in the first trimester and cholecystomegaly identified in the middle trimester of pregnancy.Methods: A 27-year-old pregnant woman who had presented at the Antenatal Diagnostic Center of Jinan Maternal and Child Health Care Hospital on October 25, 2018 was selected as the study subject. Chorionic villus sampling was carried out in the first trimester for chromosomal karyotyping and SNP-Array analysis. Amniocentesis was carried out in the second trimester, and peripheral blood of the couple was collected at the same time. Trio whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis.Results: No abnormality was found by chromosomal karyotyping and SNP-Array, whilst high-throughput sequencing revealed that the fetus had harbored a heterozygous c.7732A>T (p.K2578X) nonsense variant of the NIPBL gene. Following elected abortion, the autopsy results were consistent with features of Cornelia de Lange syndrome (CdLS). The same variant was detected in neither parents and was unreported in the literature. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as pathogenic (PVS1+PS2+PM2_Supporting+PP3).Conclusion: The novel nonsense variant of the NIPBL gene probably underlay the genetic etiology of CdLS in this fetus. Above finding has also enriched the mutational spectrum of the NIPBL gene.","PeriodicalId":39319,"journal":{"name":"Chinese Journal of Medical Genetics","volume":"41 7","pages":"835-839"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene]. [一名因 CLTC 基因变异而患有智力发育障碍和癫痫的儿童的临床表型和遗传分析]。

Chinese Journal of Medical Genetics Pub Date : 2024-07-10 DOI: 10.3760/cma.j.cn511374-20230515-00288

Zaoye Xie, Chengyan Li, Chaohong Chen, Binglong Huang, Ling Liu, Dang Ao

{"title":"[Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene].","authors":"Zaoye Xie, Chengyan Li, Chaohong Chen, Binglong Huang, Ling Liu, Dang Ao","doi":"10.3760/cma.j.cn511374-20230515-00288","DOIUrl":"10.3760/cma.j.cn511374-20230515-00288","url":null,"abstract":"Objective: To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy.Methods: A child who was admitted to the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results: The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c.3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3).Conclusion: The c.3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.","PeriodicalId":39319,"journal":{"name":"Chinese Journal of Medical Genetics","volume":"41 7","pages":"817-820"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis]. [α-地中海贫血基因分析临床遗传咨询专家共识]。

Chinese Journal of Medical Genetics Pub Date : 2024-06-10 DOI: 10.3760/cma.j.cn511374-20240131-00079

Hui Xi, Qin Liu, Jing Liu, Wenxian Yu, Xuedong Wu, Qingxian Chang

引用次数: 0

[Research progress of genetic research on Char syndrome]. [夏尔综合征基因研究进展]。

Chinese Journal of Medical Genetics Pub Date : 2024-06-10 DOI: 10.3760/cma.j.cn511374-20210607-00478

Meifang Zhao, Liangliang Fan, Rong Xiang

引用次数: 0

[Specification for genetic diagnosis of congenital heart disease]. [先天性心脏病基因诊断规范]。

Chinese Journal of Medical Genetics Pub Date : 2024-06-10 DOI: 10.3760/cma.j.cn511374-20230627-00396

Cardiovascular Medicine Professional Committee Of The Chinese Medical Education Association, Medical Genetics Branch Of Chinese Medical Association, Cardiology Group Of Pediatric Surgery Branch Of Chinese Medical Association, Guowei He, Ming Qi, Deye Yang

{"title":"[Specification for genetic diagnosis of congenital heart disease].","authors":"Cardiovascular Medicine Professional Committee Of The Chinese Medical Education Association, Medical Genetics Branch Of Chinese Medical Association, Cardiology Group Of Pediatric Surgery Branch Of Chinese Medical Association, Guowei He, Ming Qi, Deye Yang","doi":"10.3760/cma.j.cn511374-20230627-00396","DOIUrl":"10.3760/cma.j.cn511374-20230627-00396","url":null,"abstract":"Congenital heart disease (CHD) is one of the most common congenital malformations and a major cause of mortality among neonates and children. Conventional methods for the diagnosis of CHD have relied on clinical features and imaging findings. With the rapid development of genetic techniques, to identify the cause of CHD through genetic diagnosis has gained great significance for the early diagnosis, treatment, and prevention of CHD. However, currently there is still a lack of norms and standards for the genetic diagnosis of CHD. In view of this, experts from the relevant fields have formulated the present norm by integrating the latest research advances on CHD-related genes with the current clinical practice on the diagnosis and treatment of CHD and status quo of genetic diagnosis in China. The norm has been recommended by the Cardiology Section of the Chinese Medical Education Association, the Medical Genetics Branch and the Heart Group of Pediatric Surgery Branch of the Chinese Medical Association, which has formulated the procedures and norms of genetic testing, prenatal diagnosis, and genetic counseling for CHD, with an aim to provide reference for clinicians as the standards for the integrated diagnosis, early treatment, and prevention of CHD.","PeriodicalId":39319,"journal":{"name":"Chinese Journal of Medical Genetics","volume":"41 6","pages":"641-650"},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Structural maintenance of chromosomes and associated genetic disorders]. [染色体的结构维护和相关遗传疾病]。

Chinese Journal of Medical Genetics Pub Date : 2024-06-10 DOI: 10.3760/cma.j.cn511374-20231120-00262

Kunhao Chen, Yuqi Shao, Yao Shi, Jie Qiao

引用次数: 0

[Identification of a novel variant in a patient with Calsequestrin 1 related myopathy]. [在一名钙调素 1 相关肌病患者中发现新型变异体]。

Chinese Journal of Medical Genetics Pub Date : 2024-06-10 DOI: 10.3760/cma.j.cn511374-20211229-01023

Xuan Guo, Zhe Zhao, Hongrui Shen, Qi Bing, Shi Xie, Jing Hu

引用次数: 0

[Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene]. [一名因 SLC9A7 基因变异而患有 X 连锁智力迟钝的儿童的临床和遗传分析]。

Chinese Journal of Medical Genetics Pub Date : 2024-06-10 DOI: 10.3760/cma.j.cn511374-20230421-00226

Wei Li, Tianjiao Fu, Spana Tamang, Yao Wang, Huaili Wang, Zhihong Zhuo

{"title":"[Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene].","authors":"Wei Li, Tianjiao Fu, Spana Tamang, Yao Wang, Huaili Wang, Zhihong Zhuo","doi":"10.3760/cma.j.cn511374-20230421-00226","DOIUrl":"10.3760/cma.j.cn511374-20230421-00226","url":null,"abstract":"Objective: To explore the clinical and genetic characteristics of a child with mental retardation, language and motor developmental delay and epilepsy.Methods: A child who was admitted to the First Affiliated Hospital of Zhengzhou University in March 2020 for intermittent seizures for over two months was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to high throughput sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.Results: The clinical manifestations of the child have included mental retardation, language and motor developmental delay, and seizures. High-throughput sequencing revealed that he has harbored a hemizygous splice site variant (NM_032591.3: c.1030-1G>C) of the SLC9A7 gene, which was inherited from his mother and unreported previously.Conclusion: The hemizygous splice site variant (NM_032591.3: c.1030-1G>C) of the SLC9A7 gene probably underlay the disease in this child. Above finding has provided a basis for clinical diagnosis and genetic counseling.","PeriodicalId":39319,"journal":{"name":"Chinese Journal of Medical Genetics","volume":"41 6","pages":"730-733"},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0