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Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome

Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2014年第1期15卷 43-50页

作者： Hou-fa YIN Xiao-yun FANG Chong-fei JIN Jin-fu YIN Jin-yu LI Su-juan ZHAO Qi MIAO Feng-wei SONG Eye Center the Second Affiliated Hospital School of Medicine Zhejiang University Hangzhou 310009 China Zhejiang Provincial Key Lab of Ophthalmology Hangzhou 310009 China

Objective： Axenfeld-Rieger syndrome （ARS） is phenotypically and genetically heterogeneous. In this study we identified the underlying genetic defect in a Chinese family with ARS. Methods： A detailed family history and clinical data were recorded. The ocular phenotype was documented using slit-lamp photography and systemic anomalies were also documented where available. The genomic DNA was extracted from peripheral blood leukocytes. All coding exons and intron-exon junctions of paired-like homeodomain transcription factor 2 （PITX2） gene and the forkhead box C1 （FOXC1） gene were amplified by polymerase chain reaction （PCR） and screened for mutation by direct DNA sequencing. Variations detected in exon 5 of PITX2 were further evaluated with cloning sequencing. The exon 5 of PITX2 was also sequenced in 100 healthy controls, unrelated to the family, for comparison. Structural models of the wild type and mutant homeodomain of PITX2 were investigated by SWISS-MODEL. Results： Affected individuals exhibited variable ocular phenotypes, whereas the systemic anomalies were similar. After direct sequencing and cloning sequencing, a heterozygous deletion/insertion mutation c. 198_201delinsTTTCT （p.M661fs＊133） was revealed in exon 5 of PITX2. This mutation co-segregated with all affected individuals in the family and was not found either in unaffected family members or in 100 unrelated controls. Conclusions： We detected a novel frameshift mutation p.M661fs＊133 in PITX2 in a Chinese family with ARS. Although PITX2 mutations and polymorphisms have been re- ported from various ethnic groups, we report for the first time the identification of a novel deletion/insertion mutation that causes frameshift mutation in the homeodomain of PITX2 protein.

关键词： Axenfeld-Rieger syndrome PITX2 gene FOXC1 gene frameshift mutation Homeodomain

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Severe Wolfram Syndrome Caused by a Novel frameshift mutation in <i>WFS1</i>Gene: Effect on the WFS1/CaM Interaction and Phenotype-Genotype Correlation

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Open Journal of Genetics 2021年第4期11卷 77-92页

作者： Mouna Tabebi Rahma Felhi Houcem Elomma Mrabet Wajdi Safi Baha Zantour Mohamed Habib Sfar Mohammed Abid Mouna Mnif Feki Faiza Fakhfakh Laboratory of Molecular and Functional Genetics Faculty of Science University of Sfax Tunisia Laboratory of Human Molecular Genetics Faculty of Medicine University of Sfax Tunisia Department of Endocrinology Tahar Sfar Hospital Mahdia Tunisia Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia

mutations in the WFS1 gene have been reported in Wolfram syndrome (WFS), a rare and autosomal recessive disorder defined by early onset of diabetes mellitus and progressive optic and hearing impairment. Only few data are available concerning the association between clinical and molecular aspects of the WFS. We present a consanguineous family with a patient presenting an early onset of WFS and severe manifestations. Sequencing of WFS1 gene was performed for all the family members to search for responsible mutation and bioinformatics tools were conducted to predict its effect on structure and function of the protein. We have detected a novel frameshift mutation in the proband at homozygous state and at the heterozygous state in the parents who have no WFS manifestations. In silico analysis predicted the pathogenicity of the mutation and could lead to a complete loss of its function. Thus, 3D modeling showed that the mutation abolishes the interaction of the CaM binding region to the N-terminal of WFS1 and then impairs the WFS1-CaM complex formation. Genotype-phenotype correlation study shows that the novel mutation predisposes to early onset of diabetes and severe symptoms observed in the proband. We also report the effect of the frameshift mutation on the CaM-WFS1 impaired binding, and we discuss its possible consequence in pancreatic β-cells dysfunction and its role in the early onset of diabetes. In conclusion, the combination of impaired functions of WFS1 including unproper interaction of the CaM, Ca2+

关键词： Wolfram Syndrome WFS1 frameshift mutation WFS1-CaM Binding

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A loss-of-function mutant allele of a glycosyl hydrolase gene has been co-opted for seed weight control during soybean domestication

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Journal of Integrative Plant Biology 2023年第11期65卷 2469-2489页

作者： Siming Wei Bin Yong Hongwei Jiang Zhenghong An Yan Wang Bingbing Li Ce Yang Weiwei Zhu Qingshan Chen Chaoying He State Key Laboratory of Plant Diversity and Specialty Crops/State Key Laboratory of Systematic and Evolutionary Botany Institute of Botanythe Chinese Academy of SciencesBeijing 100093China China National Botanical Garden Beijing 100093China College of Life Sciences University of Chinese Academy of SciencesBeijing 100049China College of Agriculture Northeast Agricultural UniversityHarbin 150030China Jilin Academy of Agricultural Sciences Changchun 130022China The Innovative Academy of Seed Design the Chinese Academy of SciencesBeijing 100101China

The resultant DNA from loss-of-function mutation can be recruited in biological evolution and ***,we present such a rare and potential case of“to gain by loss”as a neomorphic mutation during soybean domestication for increasing seed *** a population derived from a chromosome segment substitution line of Glycine max(SN14)and Glycine soja(ZYD06),a quantitative trait locus(QTL)of 100-seed weight(q HSW)was mapped on chromosome 11,corresponding to a truncatedβ-1,3-glucosidase(βGlu)*** novel gene hsw results from a 14-bp deletion,causing a frameshift mutation and a premature stop codon in theβ*** contrast to HSW,the hsw completely lostβGlu activity and function but acquired a novel function to promote cell expansion,thus increasing seed *** hsw instead of HSW produced large soybean seeds,and surprisingly,truncating hsw via gene editing further increased the seed *** further found that the core 21-aa peptide of hsw and its variants acted as a promoter of seed *** variation in these transgenic soybean lines substantiated the integration hsw into cell and seed size ***,the hsw allele underwent selection and expansion during soybean domestication and *** work cloned a likely domesticated QTL controlling soybean seed weight,revealed a novel genetic variation and mechanism in soybean domestication,and provided new insight into crop domestication and breeding,and plant evolution.

关键词： domestication frameshift mutation QTL seed weight soybean to gain by loss

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Telomere erosion is independent of microsatellite instability but related to loss of heterozygosity in gastric cancer

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World Journal of Gastroenterology 2001年第4期7卷 522-526页

作者： Dian-Chun Fang Shi-Ming Yang Xiao-Dong Zhou Dong-Xu Wang Yuan-Hui Luo Department of Gastroenterology,Southwest Hospital,Third Military Medical University,Chongqing 400038,China Southwest Hospital Third Military Medical University Chongqing 400038China. fangdianchun@***

AIM: To correlate the length of the telomere to microsatellite instability (MSI) and loss of heterozygosity (LOH) of APC, MCC and DCC genes in gastric carcinomas. METHODS: Telomeric restriction fragment (TRF) length of gastric cancer was measured with Southern blot. LOH of APC, MCC and DCC genes, microsatellite instability (MSI) and frameshift mutation of hMSH6, TGF-betaRII and BAX genes were analyzed by PCR-based methods. RESULTS: Sixty-eight cases of sporadic gastric carcinoma were studied for MSI using five microsatellite markers. MSI in at least one locus was detected in 17 (25%) of 68 tumors analyzed. frameshift mutations of hMSH6, TGF-betaRII and BAX were detected in 2,6 and 3 of gastric carcinomas respectively showing high MSI (> or = 2 loci, n = 8), but none was found in those showing low MSI (only one locus, n = 9) or MSS (tumor lacking MSI or stable, n = 51). Thirty-five cases, including all high MSI and low MSI, were studied for TRF. The mean TRF length was not correlated with clinicopathological parameters. No association was observed between TRF length and MSI or frameshift mutation. On the contrary, LOH at the DCC locus was related to telomere shortening (Pmutations to accumulate and generate the high MSI phenotype. In gastric cancers showing either low MSI or MSS, multiple deletions may represent the LOH pathway. Telomere erosion is independent of high MSI phenotype but related to the LOH pathway in gastric cancer.

关键词： Adult Aged DNA, Neoplasm Female frameshift mutation Humans Loss of Heterozygosity Male Microsatellite Repeats Middle Aged Research Support, Non-U.S. Gov't Stomach Neoplasms Telomere

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Novel mutations of the Alstr?m syndrome 1 gene in an infant with dilated cardiomyopathy:A case report

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World Journal of Clinical Cases 2022年第7期10卷 2330-2335页

作者： Ping Jiang Liang Xiao Yuan Guo Rong Hu Bo-Yi Zhang Yi He Department Of Cardiology Zhuzhou Central HospitalZhuzhou 412000Hunan ProvinceChina Department of Pediatric Zhuzhou Central HospitalZhuzhou 412000Hunan ProvinceChina Department of Medical Ultrasonics Zhuzhou Central HospitalZhuzhou 412000Hunan ProvinceChina

BACKGROUND Alstr?m syndrome(AS)is a rare autosomal recessive disease that is generally induced by mutations of the Alstr?m syndrome 1(ALMS1)*** report a case of AS,extend the spectrum of ALMS1 mutations and highlight the biological role of ALMS1 to explore the relationship between dilated cardiomyopathy(DCM)and mutations in *** SUMMARY We present the case of an infant with AS mainly manifesting with DCM that was caused by a novel mutation of the ALMS1 ***-exome sequencing revealed a simultaneous large deletion and point mutation in ALMS1,leading to frameshift and missense mutations,respectively,rather than nonsense or frameshift mutations,which have been reported *** optimized anti-remodeling therapy,biohumoral exams and arrhythmic burden of the infant were alleviated at follow-up after 6 *** We identified novel mutations of ALMS1 and extended the spectrum of ALMS1 mutations in an infant with AS.

关键词： Alström syndrome Dilated cardiomyopathy Alström syndrome 1 Missense mutation frameshift mutation Case report

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Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome

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International Journal of Ophthalmology(English edition) 2023年第4期16卷 499-504页

作者： Hong-Yang Zhang Chun-Yan Zhang Fei Wang Hai Tao Ya-Ping Tian Xi-Bin Zhou Fang Bai Peng Wang Jia-Yi Cui Min-Jie Zhang Li-Hua Wang Senior Department of Ophthalmology the Third Medical CenterChinese PLA General HospitalBeijing 100039China Center for Birth Defects Prevention and Control Technology Research and Innovation Chinese PLA General HospitalBeijing 100853China

AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic ***:Ophthalmological examinations,including slit-lamp biomicroscopy and lacrimal duct probing,and computed tomography dacryocystography(CT-DCG)were performed for all *** family pedigree was drawn,genetic features were analyzed,and the genomic DNA of the subjects was *** genes were screened via whole exome sequencing(WES)and confirmed using Sanger ***:Six patients belonged to this three-generation family,and their clinical manifestations included congenital nasolacrimal duct obstruction,congenital absence of lacrimal puncta and canaliculi,lacrimal fistulae,and limb *** pattern indicates autosomal dominant *** was based on the clinical characteristics of LADD syndrome,which presented in all the patients in this family.A novel frameshif t mutation in the FGF10 gene(NM_004465.1),c.234dup C(***79Leus*15),was identified in all patients via *** variant was confirmed by Sanger sequencing and classified as a“pathogenic mutation”according to the American College of Medical Genetics and Genomics(ACMG)variant interpretation ***:A novel frameshift mutation in the FGF10 gene is found in all *** finding helps this family with LADD syndrome receiving a more accurate clinical diagnosis and genetic counseling by extending the mutation range of the FGF10 gene.

关键词： FGF10 gene frameshift mutation congenital lacrimal duct dysplasia LADD syndrome pedigree

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A novel NF1 frame-shift mutation c.703＿704delTA in a Chinese pedigree with neurofibromatosis type 1

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International Journal of Ophthalmology(English edition) 2018年第9期11卷 1562-1565页

作者： Jun Chen Bo Guo Min Ren Hong Lin Xin Zhang Si-Yi Chen Xiao-Tian Yu Zhu-Ping Xu Department of Ophthalmology West China HospitalSichuan University Department of Oncology West China HospitalSichuan University

We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1（NF1）. Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were asymptomatic. Exons of NF1 were amplified by polymerase chain reaction, sequenced, compared with a reference database. One novel NF1 frame-shift mutation c.703_704delTA, which resulted in a premature stop signal at codon 720 and the synthesis of truncated, was revealed. This mutation segregated with the NF1 members is likely responsible for the pathogenesis of NF1 in the family.

关键词： neurofibromatosis type 1 NF1 gene frameshift mutation

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Novel mutation c.2090_2091del in neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities in an 18.5-mo-old boy:A case report

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World Journal of Clinical Cases 2023年第16期11卷 3891-3898页

作者： Yi Li Zheng Zhou Yan Xu Zhi-Ru Wang College of Pediatrics Henan University of Chinese MedicineZhengzhou 450000Henan ProvinceChina Department of Pediatrics The First Affiliated HospitalHenan University of Chinese MedicineZhengzhou 450000Henan ProvinceChina

BACKGROUND Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities(NECRC)is a rare,autosomal,dominant neurological disorder caused by mutations in the ZMYM2 *** date,the clinical and functional characteristics of the novel ZMYM2 mutation c.2090_2091del have not yet been *** SUMMARY The patient was an 18.5-mo-old Chinese boy with motor and language delay,microcephaly,facial dysmorphism,moderate malnutrition,single palmar crease on the left hand,synpolydactyly of the right foot,hypotonia and feeding *** boy who was diagnosed with NECRC was enrolled in the First Affiliated Hospital,Henan University of Chinese Medicine,and his clinical data were *** the whole-exon sequencing(WES)data,the pathogenic SNVs/InDels were identified,and the molecular findings were *** revealed that the heterozygous variant in the ZMYM2 gene was c.2090_20-91del,***697TrpfsTer3,a frameshift mutation,which is a NECRC-related gene *** We performed a systematic literature review to identify and characterize *** evidence from the literature indicated that patients with ZMYM2 gene mutation showed different degrees of intellectual disability,motor and language retardation,facial dysmorphism,and a few had congenital heart defects,kidney and urinary tract *** diagnosis and prompt management with comprehensive rehabilitation training are beneficial,but may not improve long-term outcomes.

关键词： ZMYM2 NECRC frameshift mutation Global developmental delay Case report

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Analysis of PAX6 gene in a Chinese aniridia family

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Chinese Medical Journal 2006年第16期119卷 1400-1402页

作者： ZHU Hai-yan WU Ling-qian PAN Qian LIANG De-sheng LONG Zhi-gao DAI He-ping XIA Kun XIA Jia-hui National Laboratory of Medical Genetics Xiangya Hospital Central South University Changsha 410078 China

Aniridia is a dominantly inherited eye anomaly characterized by the near or complete absence of the iris with an incidence of approximately 1：80 000.1 Other ocular complications include glaucoma, cataract, and optic nerve hypoplasia. Aniridia can occur by itself, showing an autosomal dominant inheritance, or as part of the WAGR syndrome （Wilm＇s tumor, aniridia, genitourinary abnormalities, and mental retardation）.2 The PAX6 gene, a transcriptional regulator, is of high homology in many kinds of animal, which involves in ocular morphogenesis3 and responsible for aniridia.＂ It is located on chromosome 11p13 and consists of 14 exons with the initiation codon in exon 4 and the termination codon in exon 13. The PAX6 protein has an unusual structure with two DNA-binding domains,

关键词： aniridia PAX6 frameshift mutation

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A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family

A novel splicing mutation in the PKD1 gene causes autosomal ...

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第一届中国临床分子诊断大会

作者： Xu Peiwen Huang Sexin Li Jie Zou Yang Gao Ming Gao Yuan Center for Reproductive Medicine

Background Autosomal dominant polycystic kidney disease（ADPKD） is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. mutations PKD1（which accounts for 85% of ADPKD and produces polycystin-1） and PKD2（produces polycystin-2） are responsible for this disease. These two polycystins are critical for maintaining normal renal tubular structures during kidney development. Case presentation We performed genetic analysis on a family with ADPKD. DNA samples extracted from ADPKD patient blood were subject to targeted Next generation sequencing for human a panel of renal disease-related genes. A splicing mutation, c.2854-3 C＞G（also known as IVS11-3 C＞G）, in the PKD1 gene was found in the 3 patients from the family, but was not found in four unaffected relatives and 100 normal control samples. Reverse transcription-PCR（RT-PCR） was performed to analyse the relative m RNA expression in the patient samples. mRNA sequencing showed that 29 bases inserted into the 3’-end of exon 11 in the PKD1 gene lead to a frameshift mutation. Conclusions The PKD1 c.2854-3 C＞G mutation leads to a frameshift mutation during translation of the polycystin-1 protein, which eventually led to ADPKD in the Chinese family.

关键词： Autosomal Dominant Polycystic Kidney Disease PKD1 gene Novel splice mutation frameshift mutation

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