当前位置： SCI文献检索 > Genes期刊下所有文献 > 46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.

46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.

Abstract：

:Ring chromosome 8 (r(8)) is one of the least frequent ring chromosomes. Usually, maternal chromosome 8 forms a ring, which can be lost from cells due to mitotic instability. The 8q24 region contains the imprinted KCNK9 gene, which is expressed from the maternal allele. Heterozygous KCNK9 mutations are associated with the imprinting disorder Birk-Barel syndrome. Here, we report a 2.5-year-old boy with developmental delay, microcephaly, dysmorphic features, diffuse muscle hypotonia, feeding problems, motor alalia and noncoarse neurogenic type of disturbance of muscle electrogenesis, partially overlapping with Birk-Barel syndrome phenotype. Cytogenetic analysis of lymphocytes revealed his karyotype to be 46,XY,r(8)(p23q24.3)[27]/45,XY,-8[3]. A de novo 7.9 Mb terminal 8p23.3p23.1 deletion, a 27.1 Mb 8p23.1p11.22 duplication, and a 4.4 Mb intact segment with a normal copy number located between them, as well as a 154-kb maternal LINGO2 gene deletion (9p21.2) with unknown clinical significance were identified by aCGH + SNP array. These aberrations were confirmed by real-time PCR. According to FISH analysis, the 8p23.1-p11.22 duplication was inverted. The ring chromosome originated from maternal chromosome 8. Targeted massive parallel sequencing did not reveal the KCNK9 mutations associated with Birk-Barel syndrome. Our data allow to assume that autosomal monosomy with inactive allele of imprinted gene arising from the loss of a ring chromosome in some somatic cells may be an etiological mechanism of mosaic imprinting disorders, presumably with less severe phenotype.

journal_name

Genes (Basel)

journal_title

Genes

authors

Kashevarova AA,Nikitina TV,Mikhailik LI,Belyaeva EO,Vasilyev SA,Lopatkina ME,Fedotov DA,Fonova EA,Zarubin AA,Sivtsev AA,Skryabin NA,Nazarenko LP,Lebedev IN

doi

10.3390/genes11121473

subject

Has Abstract

pub_date

2020-12-09 00:00:00

issue

12

issn

2073-4425

pii

genes11121473

journal_volume

11

pub_type

杂志文章

相关文献

Genes文献大全
  • Genomic Selection for Optimum Index with Dry Biomass Yield, Dry Mass Fraction of Fresh Material, and Plant Height in Biomass Sorghum.

    abstract：:Sorghum is one of the world's major crops, expresses traits for resilience to climate change, and can be used for several purposes including food and clean fuels. Multiple-trait genomic prediction and selection models were implemented using genotyping-by-sequencing single nucleotide polymorphism markers and phenotypic...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11010061

    authors： Habyarimana E,Lopez-Cruz M,Baloch FS

    更新日期：2020-01-05 00:00:00

  • The RabGAP Gene Family in Tomato (Solanum lycopersicum) and Wild Relatives: Identification, Interaction Networks, and Transcriptional Analysis during Plant Development and in Response to Salt Stress.

    abstract：:RabGTPase activating proteins (RabGAP) are responsible for directing the deactivation of vesicular trafficking master regulators associated to plant development, the RabGTPase proteins. Recently, RabGAPs were identified in Arabidopsis and rice, but studies were not yet reported in tomato. Herein, we identified 24 RabG...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10090638

    authors： Madrid-Espinoza J,Salinas-Cornejo J,Ruiz-Lara S

    更新日期：2019-08-23 00:00:00

  • Cytogenetics in Arctica islandica (Bivalvia, Arctidae): the Longest Lived Non-Colonial Metazoan.

    abstract：:Due to its extraordinary longevity and wide distribution, the ocean quahog Arctica islandica has become an important species model in both aging and environmental change research. Notwithstanding that, most genetic studies on ocean quahogs have been focused on fishery related, phylogeographic and phylogenetic aspects ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9060299

    authors： García-Souto D,Pasantes JJ

    更新日期：2018-06-13 00:00:00

  • Identification of a Novel Imprinted Transcript in the Porcine GNAS Complex Locus Using Methylome and Transcriptome of Parthenogenetic Fetuses.

    abstract：:Genomic imprinting in domestic animals contributes to the variance of performance traits. However, research remains to be done on large-scale detection of epigenetic landscape of porcine imprinted loci including the GNAS complex locus. The purpose of this study was to generate porcine parthenogenetic fetuses and compr...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11010096

    authors： Ahn J,Wu H,Lee J,Hwang IS,Yu D,Ahn JS,Lee JW,Hwang S,Lee K

    更新日期：2020-01-14 00:00:00

  • Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.

    abstract：:Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmo...

    journal_title：Genes

    pub_type：

    doi：10.3390/genes7120108

    authors： Skauli N,Wallace S,Chiang SC,Barøy T,Holmgren A,Stray-Pedersen A,Bryceson YT,Strømme P,Frengen E,Misceo D

    更新日期：2016-11-29 00:00:00

  • Comparative Analysis of Cotton Small RNAs and Their Target Genes in Response to Salt Stress.

    abstract：:Small RNAs play an important role in regulating plant responses to abiotic stress. Depending on the method of salt application, whether sudden or gradual, plants may experience either salt shock or salt stress, respectively. In this study, small RNA expression in response to salt shock and long-term salt stress in par...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes8120369

    authors： Yin Z,Han X,Li Y,Wang J,Wang D,Wang S,Fu X,Ye W

    更新日期：2017-12-05 00:00:00

  • Targeting MDM4 Splicing in Cancers.

    abstract：:MDM4, an essential negative regulator of the P53 tumor suppressor, is frequently overexpressed in cancer cells that harbor a wild-type P53. By a mechanism based on alternative splicing, the MDM4 gene generates two mutually exclusive isoforms: MDM4-FL, which encodes the full-length MDM4 protein, and a shorter splice va...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes8020082

    authors： Bardot B,Toledo F

    更新日期：2017-02-20 00:00:00

  • Identification of Loci Controlling the Dwarfism Trait in the White Sailfin Molly (Poecilia latipinna) Using Genome-Wide Association Studies Based on Genotyping-By-Sequencing.

    abstract：:Dwarfism is a condition defined by low harvest weight in fish, but also results in strange body figures which may have potential for the selective breeding of new ornamental fish strains. The objectives of this study are to reveal the physiological causes of dwarfism and identify the genetic loci controlling this trai...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10060418

    authors： Shao F,Liu J,Ren M,Li J,Bao H,Wu C

    更新日期：2019-05-30 00:00:00

  • Development and Cell Cycle Activity of the Root Apical Meristem in the Fern Ceratopteris richardii.

    abstract：:Ferns are a representative clade in plant evolution although underestimated in the genomic era. Ceratopteris richardii is an emergent model for developmental processes in ferns, yet a complete scheme of the different growth stages is necessary. Here, we present a developmental analysis, at the tissue and cellular leve...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11121455

    authors： Aragón-Raygoza A,Vasco A,Blilou I,Herrera-Estrella L,Cruz-Ramírez A

    更新日期：2020-12-04 00:00:00

  • Haploidy in Tobacco Induced by PsASGR-BBML Transgenes via Parthenogenesis.

    abstract：BACKGROUND:Engineering apomixis in sexually reproducing plants has been long desired because of the potential to fix hybrid vigor. Validating the functionality of genes originated from apomictic species that contribute to apomixis upon transfer to sexually reproducing species is an important step. The PsASGR-BABYBOOM-l...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11091072

    authors： Zhang Z,Conner J,Guo Y,Ozias-Akins P

    更新日期：2020-09-12 00:00:00

  • Genome-Wide Identification of lncRNAs During Rice Seed Development.

    abstract：:Rice seed is a pivotal reproductive organ that directly determines yield and quality. Long non-coding RNAs (lncRNAs) have been recognized as key regulators in plant development, but the roles of lncRNAs in rice seed development remain unclear. In this study, we performed a paired-end RNA sequencing in samples of rice ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11030243

    authors： Zhao J,Ajadi AA,Wang Y,Tong X,Wang H,Tang L,Li Z,Shu Y,Liu X,Li S,Wang S,Liu W,Zhang J

    更新日期：2020-02-26 00:00:00

  • Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

    abstract：:Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addition, the most recog...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9040216

    authors： Stella A,Lastella P,Loconte DC,Bukvic N,Varvara D,Patruno M,Bagnulo R,Lovaglio R,Bartolomeo N,Serio G,Resta N

    更新日期：2018-04-17 00:00:00

  • Single-Cell Genomic Analysis in Plants.

    abstract：:Individual cells in an organism are variable, which strongly impacts cellular processes. Advances in sequencing technologies have enabled single-cell genomic analysis to become widespread, addressing shortcomings of analyses conducted on populations of bulk cells. While the field of single-cell plant genomics is in it...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes9010050

    authors： Yuan Y,Lee H,Hu H,Scheben A,Edwards D

    更新日期：2018-01-22 00:00:00

  • The Genome of the North American Brown Bear or Grizzly: Ursus arctos ssp. horribilis.

    abstract：:The grizzly bear (Ursus arctos ssp. horribilis) represents the largest population of brown bears in North America. Its genome was sequenced using a microfluidic partitioning library construction technique, and these data were supplemented with sequencing from a nanopore-based long read platform. The final assembly was...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9120598

    authors： Taylor GA,Kirk H,Coombe L,Jackman SD,Chu J,Tse K,Cheng D,Chuah E,Pandoh P,Carlsen R,Zhao Y,Mungall AJ,Moore R,Birol I,Franke M,Marra MA,Dutton C,Jones SJM

    更新日期：2018-11-30 00:00:00

  • Unravelling the Roles of Susceptibility Loci for Autoimmune Diseases in the Post-GWAS Era.

    abstract：:Although genome-wide association studies (GWAS) have identified several hundred loci associated with autoimmune diseases, their mechanistic insights are still poorly understood. The human genome is more complex than single nucleotide polymorphisms (SNPs) that are interrogated by GWAS arrays. Apart from SNPs, it also c...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes9080377

    authors： Ye J,Gillespie KM,Rodriguez S

    更新日期：2018-07-27 00:00:00

  • Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs.

    abstract：:White coat color in mammals has been selected several times during the domestication process. Numerous dog breeds are fixed for one form of white coat color that involves darkly pigmented skin. The genetic basis of this color, due to the absence of pigment in the hairs, was suggested to correspond to extreme dilution ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10050386

    authors： Hédan B,Cadieu E,Botherel N,Dufaure de Citres C,Letko A,Rimbault M,Drögemüller C,Jagannathan V,Derrien T,Schmutz S,Leeb T,André C

    更新日期：2019-05-21 00:00:00

  • RAD-ical New Insights into RAD51 Regulation.

    abstract：:The accurate repair of DNA is critical for genome stability and cancer prevention. DNA double-strand breaks are one of the most toxic lesions; however, they can be repaired using homologous recombination. Homologous recombination is a high-fidelity DNA repair pathway that uses a homologous template for repair. One cen...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes9120629

    authors： Sullivan MR,Bernstein KA

    更新日期：2018-12-13 00:00:00

  • Coordinated Dialogue between UHRF1 and DNMT1 to Ensure Faithful Inheritance of Methylated DNA Patterns.

    abstract：:DNA methylation, catalyzed by DNA methyltransferases (DNMTs), is an epigenetic mark that needs to be faithfully replicated during mitosis in order to maintain cell phenotype during successive cell divisions. This epigenetic mark is located on the 5'-carbon of the cytosine mainly within cytosine⁻phosphate⁻guanine (CpG)...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes10010065

    authors： Bronner C,Alhosin M,Hamiche A,Mousli M

    更新日期：2019-01-18 00:00:00

  • K-mer Content, Correlation, and Position Analysis of Genome DNA Sequences for the Identification of Function and Evolutionary Features.

    abstract：:In genome analysis, k-mer-based comparison methods have become standard tools. However, even though they are able to deliver reliable results, other algorithms seem to work better in some cases. To improve k-mer-based DNA sequence analysis and comparison, we successfully checked whether adding positional resolution is...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes8040122

    authors： Sievers A,Bosiek K,Bisch M,Dreessen C,Riedel J,Froß P,Hausmann M,Hildenbrand G

    更新日期：2017-04-19 00:00:00

  • Beyond Trees: Regulons and Regulatory Motif Characterization.

    abstract：:Trees and their seeds regulate their germination, growth, and reproduction in response to environmental stimuli. These stimuli, through signal transduction, trigger transcription factors that alter the expression of various genes leading to the unfolding of the genetic program. A regulon is conceptually defined as a s...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes11090995

    authors： Xia X

    更新日期：2020-08-25 00:00:00

  • Porcine Epidemic Diarrhea Altered Colonic Microbiota Communities in Suckling Piglets.

    abstract：:Porcine epidemic diarrhea (PED) is a major gastrointestinal disease afflicting suckling pigs that causes huge industrial economic losses. In this study, we investigated microbiota from the colonic mucosa and content in healthy and PED piglets. High-throughput 16S rRNA gene sequencing was performed to identify inter-gr...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11010044

    authors： Tan Z,Dong W,Ding Y,Ding X,Zhang Q,Jiang L

    更新日期：2019-12-30 00:00:00

  • Reducing the Number of Mismatches between Hairs and Buccal References When Analysing mtDNA Heteroplasmic Variation by Massively Parallel Sequencing.

    abstract：:In forensics, mitochondrial DNA (mtDNA) analysis is foremost applied to rootless hairs often lacking detectable nuclear DNA. Sanger sequencing is the routine mtDNA method in most forensic laboratories, even though interpretation of mixed samples and heteroplasmic sites can be challenging. Individuals may hold cells wi...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11111355

    authors： Gaag KJV,Desmyter S,Smit S,Prieto L,Sijen T

    更新日期：2020-11-16 00:00:00

  • Multi-Trait Genomic Prediction of Yield-Related Traits in US Soft Wheat under Variable Water Regimes.

    abstract：:The performance of genomic prediction (GP) on genetically correlated traits can be improved through an interdependence multi-trait model under a multi-environment context. In this study, a panel of 237 soft facultative wheat (Triticumaestivum L.) lines was evaluated to compare single- and multi-trait models for predic...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11111270

    authors： Guo J,Khan J,Pradhan S,Shahi D,Khan N,Avci M,Mcbreen J,Harrison S,Brown-Guedira G,Murphy JP,Johnson J,Mergoum M,Esten Mason R,Ibrahim AMH,Sutton R,Griffey C,Babar MA

    更新日期：2020-10-28 00:00:00

  • The Tumor Suppressor p53 in Mucosal Melanoma of the Head and Neck.

    abstract：:Despite worldwide prevention programs, the incidence for cutaneous melanoma is continuously increasing. Mucosal melanoma (MM) represents a rare but highly aggressive phenotype of common melanoma with predilection in the sinonasal system. Far away from ultraviolet sun exposure, the molecular mechanisms underlying tumor...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes8120384

    authors： Fritsche MK,Knopf A

    更新日期：2017-12-13 00:00:00

  • High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

    abstract：:The development of high-throughput sequencing technologies and screening of big patient cohorts with familial and sporadic amyotrophic lateral sclerosis (ALS) led to the identification of a significant number of genetic variants, which are sometimes difficult to interpret. The American College of Medical Genetics and ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11101123

    authors： Lattante S,Marangi G,Doronzio PN,Conte A,Bisogni G,Zollino M,Sabatelli M

    更新日期：2020-09-24 00:00:00

  • Protein Changes in Response to Lead Stress of Lead-Tolerant and Lead-Sensitive Industrial Hemp Using SWATH Technology.

    abstract：:Hemp is a Pb-tolerant and Pb-accumulating plant and the study of its tolerance mechanisms could facilitate the breeding of hemp with enhanced Pb tolerance and accumulation. In the present study, we took advantage of sequential window acquisition of all theoretical mass spectra (SWATH) technology to study the differenc...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10050396

    authors： Xia C,Hong L,Yang Y,Yanping X,Xing H,Gang D

    更新日期：2019-05-22 00:00:00

  • Preimplantation Genetic Testing for Monogenic Disorders.

    abstract：:Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. I...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes11080871

    authors： De Rycke M,Berckmoes V

    更新日期：2020-07-31 00:00:00

  • The evolution of protein structures and structural ensembles under functional constraint.

    abstract：:Protein sequence, structure, and function are inherently linked through evolution and population genetics. Our knowledge of protein structure comes from solved structures in the Protein Data Bank (PDB), our knowledge of sequence through sequences found in the NCBI sequence databases (http://www.ncbi.nlm.nih.gov/), and...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes2040748

    authors： Siltberg-Liberles J,Grahnen JA,Liberles DA

    更新日期：2011-10-28 00:00:00

  • Constructing the Microbial Association Network from Large-Scale Time Series Data Using Granger Causality.

    abstract：:The increasing availability of large-scale time series data allows the inference of microbial community dynamics by association network analysis. However, correlation-based association network analyses are noninformative of causal, mediating and time-dependent relationships between microbial community functional facto...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10030216

    authors： Ai D,Li X,Liu G,Liang X,Xia LC

    更新日期：2019-03-14 00:00:00

  • Association of XPC Gene Polymorphisms with Colorectal Cancer Risk in a Southern Chinese Population: A Case-Control Study and Meta-Analysis.

    abstract：:Xeroderma pigmentosum group C (XPC) is a key component of the nucleotide excision repair (NER) pathway. Dysfunctional XPC protein may impair NER-mediated DNA repair capacity and further lead to genomic instability and carcinogenesis. Two common nonsynonymous polymorphisms in the XPC gene, Lys939Gln (rs2228001 A > C) a...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes7100073

    authors： Hua RX,Zhu J,Jiang DH,Zhang SD,Zhang JB,Xue WQ,Li XZ,Zhang PF,He J,Jia WH

    更新日期：2016-09-24 00:00:00