中华医学遗传学杂志最新文献_第10页

[Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia]. [多发性骺发育不良中国血统的基因变异和分子发病机制分析]。

中华医学遗传学杂志 Pub Date : 2024-07-10 DOI: 10.3760/cma.j.cn511374-20230515-00286

Shan Li, Yueyang Sheng, Xinyu Wang, Ying Wang, Yanzhuo Zhang, Cheng'ai Wu, Xu Jiang

{"title":"[Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].","authors":"Shan Li, Yueyang Sheng, Xinyu Wang, Ying Wang, Yanzhuo Zhang, Cheng'ai Wu, Xu Jiang","doi":"10.3760/cma.j.cn511374-20230515-00286","DOIUrl":"10.3760/cma.j.cn511374-20230515-00286","url":null,"abstract":"Objective: To analyze the genetic variant and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia (MED).Methods: A MED pedigree which had presented at the Beijing Jishuitan Hospital Affiliated to Capital Medical University on September 13, 2020 was selected as the study subject. Clinical data of the pedigree were collected. Peripheral blood samples were drawn from pedigree members for the extraction of genomic DNA. Whole exome sequencing (WES) was carried out for the pedigree. Candidate variant was verified by Sanger sequencing. Wild type and mutant SLC26A2 expression plasmids were constructed and transfected into human primary chondrocytes. The effect of the variants on the protein localization and cell proliferation was determined by immunofluorescence and CCK8 assays.Results: WES and Sanger sequencing revealed that the proband has harbored compound heterozygous variants of the SLC26A2 gene, including a paternally derived c.484G>T (p.Val162Leu) missense variant and a maternally derived c.485_486delTG (p.Val162Glyfs*12) frameshifting variant. The SLC26A2WT and its mutant SLC26A2Val162Leu and SLC26A2Val162Glyfs*12 expression plasmids were distributed in the nuclei and cytoplasm of human primary chondrocytes. Compared with SLC26A2WT, the expressions of SLC26A2Val162Leu and SLC26A2Val162Glyfs*12 were decreased, along with reduced proliferation of human primary chondrocytes.Conclusion: The c.484G>T and c.485_486delTG compound heterozygous variants of the SLC26A2 gene may affect the proliferation of human primary chondrocytes and underlay the pathogenesis of MED in this pedigree.","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 7","pages":"807-811"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471358","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

[Association of the -c.108C>T and c.192Q>R polymorphisms of the PON1 gene with preeclampsia among Chinese women]. [PON1基因的-c.108C>T和c.192Q>R多态性与中国妇女子痫前期的关系]。

中华医学遗传学杂志 Pub Date : 2024-07-10 DOI: 10.3760/cma.j.cn511374-20230515-00287

Xinyuan Zhang, Ping Fan, Qingqing Liu, Xinghui Liu, Huai Bai, Yujie Wu, Suiyan Li

{"title":"[Association of the -c.108C>T and c.192Q>R polymorphisms of the PON1 gene with preeclampsia among Chinese women].","authors":"Xinyuan Zhang, Ping Fan, Qingqing Liu, Xinghui Liu, Huai Bai, Yujie Wu, Suiyan Li","doi":"10.3760/cma.j.cn511374-20230515-00287","DOIUrl":"10.3760/cma.j.cn511374-20230515-00287","url":null,"abstract":"Objective: To assess the association of -c.108C>T and c.192Q>R polymorphisms of paraoxonase 1 (PON1) gene with preeclampsia (PE) and the influence of genotypes on the metabolic and oxidative stress indexes among Chinese women.Methods: This case-control study has included 334 patients with PE and 1337 healthy pregnant women. The -c.108C>T and c.192Q>R genotypes were determined by PCR and restriction fragment length polymorphism method. Metabolic and oxidative stress parameters were also analyzed.Results: No statistical difference in the genotypic and allelic frequencies for the -c.108C>T and c.192Q>R polymorphisms of the PON1 gene was found between the PE patients and the healthy controls (P > 0.05). Nevertheless, the 192Q-108T haplotype of these polymorphisms was associated with an increased risk of PE (P = 0.007). Total antioxidant capacity (TAC) and atherosderosis index were higher in patients with the -108TT genotype compared with those with a CT genotype (P < 0.05); whilst total oxidant status was lower in patients with a CT genotype compared with those with a CC genotype (P = 0.036). Malondialdehyde level was higher in patients with a 192RR genotype compared with those with a QQ genotype (P = 0.019). TAC level was higher in patients with a RR genotype compared with those with a QR genotype (P = 0.015).Conclusion: The 192Q-108T haplotype of the PON1 gene is associated with the risk for PE. These polymorphisms may be associated with abnormal lipid metabolism and oxidative stress among Chinese PE patients.","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 7","pages":"866-871"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471360","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

[Genetic analysis of a child with Dyschromatosis symmetrica hereditaria]. [对称性遗传色素沉着病患儿的基因分析]。

中华医学遗传学杂志 Pub Date : 2024-07-10 DOI: 10.3760/cma.j.cn511374-20230612-00352

Qian Ma, Lingyi Che, Xiangdong Kong

{"title":"[Genetic analysis of a child with Dyschromatosis symmetrica hereditaria].","authors":"Qian Ma, Lingyi Che, Xiangdong Kong","doi":"10.3760/cma.j.cn511374-20230612-00352","DOIUrl":"10.3760/cma.j.cn511374-20230612-00352","url":null,"abstract":"Objective: To investigate the clinical and genetic features of a child with Dyschromatosis symmetrica hereditaria (DSH) and variant of the ADAR1 gene.Methods: A child who was admitted to the Department of Dermatology of the First Affiliated Hospital of Zhengzhou University in June 2020 due to irregular pigmented maculopapular rash on the dorsum of hands was selected as the study subject. Whole exome sequencing (WES) was carried out for the child and his similarly affected father, and Sanger sequencing was used to verify the candidate variant. SWISS-MODEL was used to predict the secondary and tertiary structures of the wild-type and mutant ADAR1 proteins.Results: The child, a 13-year-old boy, had symmetrical hyperpigmented and depigmented spots on the back of his hands and was clinically diagnosed with DSH. WES and Sanger sequencing results showed that he and his father had both harbored a heterozygous c.2858dup (p.T954Dfs*20) truncating variant in exon 10 of the ADAR1 gene. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted as pathogenic (PVS1+PM2_Supporting+PM1+PP3).Conclusion: The c.2858dup (p.T954Dfs*20) variant of the ADAR1 gene probably underlay the DSH in this pedigree.","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 7","pages":"849-852"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471367","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 and genetic analysis of a child with X-linked intellectual developmental disorder due to a novel variant of NEXMIF gene]. [一名因 NEXMIF 基因新型变异而患有 X 连锁智力发育障碍的儿童的临床和遗传分析]。

Chinese Journal of Medical Genetics Pub Date : 2024-07-10 DOI: 10.3760/cma.j.cn511374-20230530-00325

Zongpeng Li, Kai Liu, Xiangyu Zhao, Lin Li

{"title":"[Clinical and genetic analysis of a child with X-linked intellectual developmental disorder due to a novel variant of NEXMIF gene].","authors":"Zongpeng Li, Kai Liu, Xiangyu Zhao, Lin Li","doi":"10.3760/cma.j.cn511374-20230530-00325","DOIUrl":"10.3760/cma.j.cn511374-20230530-00325","url":null,"abstract":"Objective: To explore the genetic basis for a child featuring facial dysmorphism and intellectual disabilities.Methods: A child who was diagnosed at Linyi People's Hospital on January 5 2023 due to \"mental retardation\" was selected as the study subject. Peripheral blood samples of the child and his parents, in addition with an amniotic fluid sample from the his mother were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members.Results: The child was found to harbor a hemizygous c.1123dupG (p.E375Gfs*4) variant of the NEXMIF gene, for which both of his parents and the fetus were of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic (PVS1+PS2-P+PM2-P). A healthy infant was subsequently born.Conclusion: The hemizygous c.1123dupG (p.E375Gfs*4) variant of the NEXMIF gene probably underlay the disease in this child. Based on his clinical phenotype and genotype, the child was ultimately diagnosed with X-linked intellectual developmental disorder-98. Above finding has also enriched the mutational spectrum of the NEXMIF gene.","PeriodicalId":39319,"journal":{"name":"Chinese Journal of Medical Genetics","volume":"41 7","pages":"821-824"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471361","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

[Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene]. [因 PTEN 基因变异导致考登综合征的中国血统遗传分析]。

中华医学遗传学杂志 Pub Date : 2024-07-10 DOI: 10.3760/cma.j.cn511374-20230516-00290

Zhiwen Peng, Canhui Zhang

{"title":"[Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene].","authors":"Zhiwen Peng, Canhui Zhang","doi":"10.3760/cma.j.cn511374-20230516-00290","DOIUrl":"10.3760/cma.j.cn511374-20230516-00290","url":null,"abstract":"Objective: To explore the clinical features and genetic etiology of a Chinese pedigree affected with Cowden syndrome (CS).Methods: A CS pedigree diagnosed in November 2022 at the Ningde Municipal Hospital Affiliated to Ningde Normal University was selected as the study subject. Clinical data were collected, and genetic testing was carried out for available members. Pathogenicity analysis was carried out for the candidate variant.Results: The proband, a 7-year-old male, was found to have autism and intellectual disability. Whole exome sequencing revealed that he has harbored a c.462_463del (p.F154Lfs25) variant of the PTEN gene. The proband's 35-year-old mother, who was diagnosed with pulmonary hamartomas at our hospital, has manifested with lipomas, nodular goiter, and adenomas. Sanger sequencing confirmed that she was also heterozygous for the c.462_463del (p.F154Lfs25) variant of the PTEN gene. No other family members has carried the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2_Supporting+PM6).Conclusion: The newly discovered c.462_463del (p.F154Lfs*25) variant of the PTEN gene probably underlay the CS in this pedigree. CS patients have higher risk for developing malignant tumors. Clinicians should be aware of this condition and emphasize follow-up of the patients.","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 7","pages":"825-829"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471368","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 child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene]. [分析一名因 SLC25A12 基因同源变异而患有发育障碍和癫痫的儿童]。

Chinese Journal of Medical Genetics Pub Date : 2024-07-10 DOI: 10.3760/cma.j.cn511374-20230428-00252

Shitao Wei, Xiaoli Huang, Luoxiao Qin, Mo Qin, Yilan Zhou, Bing Yu, Dejian Yuan, Rongsong Yi, Yang Tian

{"title":"[Analysis of a child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene].","authors":"Shitao Wei, Xiaoli Huang, Luoxiao Qin, Mo Qin, Yilan Zhou, Bing Yu, Dejian Yuan, Rongsong Yi, Yang Tian","doi":"10.3760/cma.j.cn511374-20230428-00252","DOIUrl":"10.3760/cma.j.cn511374-20230428-00252","url":null,"abstract":"Objective: To explore the genetic basis for a child featuring global developmental delay and epilepsy.Methods: A child who had presented at Guangzhou Women and Children's Medical Center Liuzhou Hospital on February 19, 2023 was selected as the study subject. Clinical data of the child was collected. The child was subjected to whole exome sequencing, and candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results: The child, an 8-month-old girl, had manifested with global developmental delay, epilepsy, and hyperlactacidemia. Cranial MRI revealed diverse hypomyelinating leukodystrophies. Electroencephalogram showed slow background activities. Genetic testing revealed that she has harbored a homozygous variant of the SLC25A12 gene, namely c.115T>G (p.Phe39Val), for which both of her parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be of uncertain significance (PM2_Supporting+PM3_Supporting+PP3_Moderate+PP4_Moderate). I-Mutant v3.0 software predicted that the variant may affect the stability of protein product.Conclusion: The homozygous c.115T>G (p.Phe39Val) variant of the SLC25A12 gene probably underlay the pathogenesis of the disease in this child.","PeriodicalId":39319,"journal":{"name":"Chinese Journal of Medical Genetics","volume":"41 7","pages":"830-834"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471354","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

[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