检索结果-南通市图书馆

A novel mutation in the SRY gene of a Chinese 46,XY female patient with unilateral mixed germ cell tumor

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Journal of Reproduction and Contraception 2016年第2期27卷 82-88页

作者： Yan-ling DONG Yu-ting YI Hua-mei HU Rong ZHANG Tao LIU Li-ying ZHOU Li-jie SONG Xin YI Hong YAO Department of Obstetrics & Gynecology Southwest Hospital the Third Military Medical University Tianjin Medical Genomics Technology Engineering Center

Objective To determine the nosogenetic factors of a 46,XY female with primary amenorrhea and unilateral mixed germ cell *** Eight genes associated with 46,XY gonadal dysgenesis were detected in the patient and her parents by target region captured-next generation *** An insertion of a single nucleotide（adenine） at the coding site 230（c.230231insA） located in the high mobility group（HMG） domain of SRY was revealed,which led to a truncated protein（***77 fsX 27）. This mutation was at position 2655414 of the Y chromosome, supported with 127 unique mapped reads, however, this mutation was not found in the in-house dataset of 1 092 controls. Additionally, none of the candidate gene was detected in the patient’s parents, which indicated that it is a de novo *** A novel SRY sporadic mutation due to a single nucleotide insertion at position 230（c.230231insA） was identified as the cause of the disease in this *** region captured-next generation sequencing was found to be an effective method for the molecular genetic testing of 46,XY complete gonadal dysgenesis（46,XY CGD）.

关键词： 46,XY complete gonadal dysgenesis(46,XY CGD) SRY gene novel mutation next generation sequencing(NGS)

Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

International Journal of Ophthalmology(English edition) 2020年第4期13卷 671-676页

作者： Xiao-Dan Hao Ying Liu Bao-Wei Li Wei Wu Xiao-Wen Zhao Institute for Translational Medicine College of MedicineQingdao UniversityQingdao 266021Shandong ProvinceChina State Key Laboratory Cultivation Base Shandong Provincial Key Laboratory of OphthalmologyShandong Eye InstituteShandong First Medical University&Shandong Academy of Medical SciencesQingdao 266071Shandong ProvinceChina

AIM: To identify the disease-associated mutations in a Chinese Stargardt disease(STGD) family, extend the existing spectrum of disease-causing mutations and further define the genotype-phenotype ***: A Chinese STGD family and 200 normal controls were collected. Whole exome sequencing(WES) and bioinformatics analysis were performed to find the pathogenic gene mutation. Physico-chemical parameters of mutant and wildtype proteins were computed by Prot Param tool. Domains analysis was performed by SMART online software. HOPE online software was used to analyze the structural effects of mutation. Immunofluorescence, quantitative real-time polymerase chain reaction and Western blotting were used for expression ***: Using WES, a novel homozygous mutation(NM_000350: c.G3190 C, p.G1064 R) in ABCA4 gene was identified. This mutation showed co-segregation with phenotype in this family. It was not found in the 200 unrelated health controls and absent from any databases. It was considered "Deleterious" as predicted by five function prediction softwares, and was highly conserved during evolution. ABCA4 was expressed highly in the human eye and mouse retina. The p.G1064 R was located in AAA domain, may force the local backbone into an incorrect conformation, disturb the local structure, and reduce the activity of ATPase resulting in the disease pathology. CONCLUSION: We define a novel pathogenic mutation(c.G3190 C of ABCA4) of STGD. This extends the existing spectrum of disease-causing mutations and further defines the genotype-phenotype correlations.

关键词： Stargardt disease whole-exome sequencing ABCA4 novel mutation retina

Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Genes & Diseases 2018年第4期5卷 331-334页

作者： Reza Ebrahimzadeh-Vesal Atieh Teymoori Ali Mohammad Dourandish Mohsen Azimi-Nezhad Department of Basic Medical Sciences Neyshabur University of Medical SciencesNeyshaburIran Department of Medical Genetics School of MedicineGolestan University of Medical SciencesGorganIran Medical Genetics Counseling Center NeyshaburIran Department of Medical Genetics School of MedicineMashhad University of Medical SciencesMashhadIran

Myofibrillar myopathies(MFMs)are rare genetic and slowly progressive neuromuscular *** pathogenic mutations have been reported in MFM-related genes including DES,CRYAB,MYOT,LDB3 or ZASP,FLNC,BAG3,FHL1 and *** MFMs is commonly inherited in an autosomal dominant manner,the inheritance pattern and novel mutated genes are not thoroughly elucidated in some ***,we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower *** parents are second *** Motor Sensory Neuropathy as initial genetic diagnosis was ruled *** exome sequencing using NGS on Illumina Hi-Seq4000 platform was performed to identify the disease and possible mutated gene(s).Our data analysis identified a homozygous nonsense unreported c.C415T(p.R139X)variant on kyphoscoliosis peptidase(KY)gene(NM_178554:exon4).Sanger sequencing of this mutation has been performed for his other related family *** and segregation analysis was confirmed the NGS results and autosomal recessive inheritance pattern of the disease.

关键词： Kyphoscoliosis peptidase gene Myofibrillar myopathy Next generation sequencing novel mutation Rare genetic neuromuscular disorders

Identification of a novel mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome： Corrigendum

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Chinese Medical Journal 2015年第14期128卷 1892-1892页

作者： JiaWei Liu Nuo Si LianQing Wang Ti Shen XueJun Zeng Xue Zhang DongLai Ma Department of Dermatology Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing 100730 China.

In the article, ＂Identification of a novel mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome＂, which appeared in the pages 1336-1339, Issue 10, Vol 128 of Chinese Medical Journal, t... 详细信息

关键词： China H syndrome novel mutation The Solute Carrier Family 29 Member 3 Gene

Phenotypic and genetic analysis of hypofibrinogenemia due to a novel missense mutation in the FGB:Leu121Arg

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Phenotypic and genetic analysis of hypofibrinogenemia due to...

Molecular Diagnosis of a Chinese Pedigree with Alpha-Mannosidosis and Identification of a novel Missense mutation

2018年浙江省检验医学学术年会

作者：张海月王明山温州医科大学附属第一医院

Objective:In this study,we found a novel missense gene mutation of fibrinogen(FIB) and it will help us to understand the pathogenesis of this type of *** presentation:The routine coagulation test showed the proband’ s FIB:C and FIB:Ag were 0.82 g/L and 1.19 g/L,respectively(reference range:2-4 g/L).Techniques:PT,APTT,TT,FIB:C,FIB:Ag,D-D and FDPs were detected using matched commercially available *** identify the novel missense mutation,the fibrinogen gene sequencing was carried *** use software analyze the amino acid substitution of ***:Phenotypic analysis showed the proband had low levels of FIB:C and FIB:*** analysis detected a heterozygous c.425 T>G point *** and model analyses illuminated that the mutation probably deleterious for the ***:The proband with hypofibrinogenemia were caused by mutations of Leu121 Arg,and it was the first report of such a mutation in the position.

关键词： FGB novel mutation genetic analysis

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Molecular Diagnosis of a Chinese Pedigree with Alpha-Mannosi...

novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria:A case report

第十二次全国医学遗传学学术会议

作者： Xiaoyun Wu Yibin Guo Jingxin Pan Jia Tang Yang Ai Weiying Jiang Department of Medical Genetics Zhongshan School of MedicineSun Yat-sen University Department of Intemal Medicine The Second Affiliated HospitalFujian University of Medical Science

Objective The purpose of this study was to research the molecular genetic mechanism of alpha-mannosidosis,to reveal the relationship between the genotype and phenotype,and to provide a prerequisite for prenatal gene diagnosis in *** The proband was preliminarily diagnosed by clinical symptom and imaging examination.A definite diagnosis was performed by detecting the alpha-mannosidase activity and directly sequencing the gDNA and cDNA of MAN2B1 ***,DHPLC,conservative analysis and protein secondary structure prediction were used to identify the pathogenicity of this novel *** The patient has compound heterozygous mutations of c.856G>A(novel) and c.788C>T in MAN2B1 *** proband’s father and mother are heterozygous with the c.788C>T and c.856 G>A mutation *** the identification results for the novel mutation are consistent with expected ones. Conclusions The c.856G>A was a novel disease-causing mutation,which was the main cause of the disease suffered by the child in this *** research was the first gene diagnosis of Chinese patient with alpha-mannosidosis.

关键词： alpha-mannosidosis MAN2B1 gene novel mutation structural analysis

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

World Journal of Clinical Cases 2022年第33期10卷 12319-12327页

作者： Yu-Qing Zhou Xiao-Qing Wang Jun Jiang Shu-Ling Huang Zhuo-Jin Dai Qiao-Qiong Kong Department of Endocrinology Dongguan Hospital of Traditional Chinese MedicineDongguan 523003Guangdong ProvinceChina Department of Science and Technology ServicesChina Beijing Macro and Micro Test Biotech Co.Ltd Beijing 100318China The First Clinical Medical College Guangdong Medical UniversityZhanjiang 523003Guangdong ProvinceChina Department of Medicine Wanjiang People's Hospital of DongguanDongguan 523003Guangdong ProvinceChina

BACKGROUND Acute intermittent porphyria(AIP)is a rare autosomal dominant porphyrin metabolic disease caused by a mutation in the hydroxymethylbilane synthase(HMBS)*** study aimed to explore the clinical manifestations of a patient with AIP,to identify a novel HMBS gene mutation in the proband and some of her family members,and to confirm the pathogenicity of the *** SUMMARY A 22-year-old Chinese woman developed severe abdominal pain,lumbago,sinus tachycardia,epileptic seizure,hypertension,and weakness in lower limbs in March,*** examinations indicated hypohepatia and *** last menstrual period was 45 d prior to admission,and she was unaware of the pregnancy,which was confirmed by a pregnancy test after *** exposure of her urine sample for 1 h turned it from yellow to wine *** porphyrin test result was *** on these clinical manifestations,AIP was *** increasing her daily glucose intake(250–300 g/d),abdominal pain was partially *** days after hospitalization,spontaneous vaginal bleeding occurred,which was confirmed as spontaneous abortion;thereafter,her clinical symptoms completely *** testing revealed a novel heterozygous splicing variant of the HMBS gene in exon 10(c.648_651+1delCCAGG)in the proband and four other family *** pathogenicity of the variant was verified through bioinformatic methods and a minigene *** We identified a novel HMBS gene mutation in a Chinese patient with AIP and confirmed its pathogenicity.

关键词： Acute intermittent porphyria Hydroxymethylbilane synthase gene novel mutation Minigene assay Bioinformatics analysis Case report

novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres:A case report

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Clinical Cases 2022年第33期10卷 12440-12446页

作者： Verónica Judith Picos-Cárdenas Saúl Armando Beltrán-Ontiveros JoséAlfonso Cruz-Ramos JoséAlfredo Contreras-Gutiérrez Eliakym Arámbula-Meraz Carla Angulo-Rojo Alma Marlene Guadrón-Llanos Emir Adolfo Leal-León Dora María Cedano-Prieto Juan Pablo Meza-Espinoza Laboratorio de Genética Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Centro de Investigación y Docencia en Ciencias de la Salud Hospital Civil de CuliacánUniversidad Autónoma de SinaloaCuliacán 80030SinaloaMexico Departamento de Clínicas Médicas Centro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico Facultad de Medicina Universidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Genética y Biología Molecular Facultad de Ciencias Químico-BiológicasUniversidad Autónoma de SinaloaCuliacán 80010SinaloaMexico Laboratorio de Neurociencias Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Diabetes y Comorbilidades Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Facultad de Medicina Universidad Autónoma de TamaulipasMatamoros 87349TamaulipasMexico

BACKGROUND Dyskeratosis congenita is a rare disease characterized by bone marrow failure and a clinical triad of oral leukoplakia,nail dystrophy,and abnormal skin *** genetics of dyskeratosis congenita include mutations in genes involved in telomere maintenance,including *** SUMMARY Here,we report a female patient who presented thrombocytopenia,anemia,reticulate hyperpigmentation,dystrophy in fingernails and toenails,and leukoplakia on the tongue.A histopathological study of the skin showed dyskeratocytes;however,a bone marrow biopsy revealed normal cell *** patient was diagnosed with dyskeratosis congenita,but her family history did not reveal significant ***-exome sequencing showed a novel heterozygous punctual mutation in exon 6 from the TINF2 gene,namely,NM_001099274.1:-c.854delp.(Val285-Alafs*32).An analysis of telomere length showed short telomeres relative to the patient’s *** The disease in this patient was caused by a germline novel mutation of TINF2 in one of her parents.

关键词： Dyskeratosis congenita TINF2 Germline mutation novel mutation Short telomeres Case report

Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

International Journal of Ophthalmology(English edition) 2023年第5期16卷 680-686页

作者： Yu-Cheng Yan Lu Zhou Jin-Cai Fan Plastic Surgery Hospital Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100041China

AIM: To discover the molecular pathogenic basis of the blepharophimosis, ptosis, and epicanthus inversus syndrome(BPES), and to predict the clinical subtype according to in vitro experiments, which is significant to the ***: A 3-year-old sporadic female patient with typical clinical manifestations of BPES was enrolled. The coding region of forkhead box L2(FOXL2) gene was sequenced, and the functional assays were performed in vitro by Western blotting, subcellular localization experiment, luciferase reporter assay, and quantitative realtime polymerase chain ***: A novel FOXL2 point pathogenic variant(c.274G>T) was detected, resulting in a truncated protein(p.E92*). Functional studies demonstrated that the FOXL2 pathogenic variant induced the subcellular mislocalization and the abnormal transcriptional activity on promoters of the steroidogenic acute regulatory protein(StAR or STARD1) gene and the odd-skipped related 2 transcription factor(OSR2) ***: A novel pathogenic variant is identified to expand the spectrum of the known FOXL2 mutations. The in vitro experiments provide reference data and more insights to the molecular pathogenesis of BPES. The predicted high risk of ovarian insufficiency makes it significant for the patient enrolled to have further follow-up and therapy concerning female endocrinology.

关键词： novel mutation pathogenic variant blepharophimosis-ptosis-epicanthus inversus syndrome FOXL2