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https://www.readbyqxmd.com/read/27813606/chromosome-7-translocation-breakpoints-in-male-carriers-clinical-features-and-implications-for-genetic-counseling
#1
R X Wang, H G Zhang, Y Pan, J H Zhu, F G Yue, L T Xue, R Z Liu
Balanced reciprocal translocations are associated with reproductive failure. Some reciprocal translocation carriers exhibit azoospermia or oligozoospermia, and an association exists between these chromosomal abnormalities and recurrent abortion. Previous reports have indicated the involvement of chromosome 7 translocations in male infertility and recurrent miscarriage. A translocation breakpoint can occur within an important gene, interrupting its structure and leading to male infertility. However, clinical characteristics resulting from chromosome 7 translocation breakpoints have not been studied...
October 17, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27610619/loss-of-mll3-catalytic-function-promotes-aberrant-myelopoiesis
#2
Kelly M Arcipowski, Marinka Bulic, Sandeep Gurbuxani, Jonathan D Licht
Two of the most common myeloid malignancies, myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), are associated with exceedingly low survival rates despite recent therapeutic advances. While their etiology is not completely understood, evidence suggests that certain chromosomal abnormalities contribute to MDS and AML progression. Among the most frequent chromosomal abnormalities in these disorders are alterations of chromosome 7: either complete loss of one copy of chromosome 7 (-7) or partial deletion of 7q (del(7q)), both of which increase the risk of progression from MDS to AML and are associated with chemoresistance...
2016: PloS One
https://www.readbyqxmd.com/read/27487800/a-1-35%C3%A2-mb-dna-fragment-is-inserted-into-the-dhmn1-locus-on-chromosome-7q34-q36-2
#3
Alexander P Drew, Anthony N Cutrupi, Megan H Brewer, Garth A Nicholson, Marina L Kennerson
Distal hereditary motor neuropathies predominantly affect the motor neurons of the peripheral nervous system leading to chronic disability. Using whole genome sequencing (WGS) we have identified a novel structural variation (SV) within the distal hereditary motor neuropathy locus on chromosome 7q34-q36.2 (DHMN1). The SV involves the insertion of a 1.35 Mb DNA fragment into the DHMN1 disease locus. The source of the inserted sequence is 2.3 Mb distal to the disease locus at chromosome 7q36.3. The insertion involves the duplication of five genes (LOC389602, RNF32, LMBR1, NOM1, MNX1) and partial duplication of UBE3C...
November 2016: Human Genetics
https://www.readbyqxmd.com/read/27363682/genome-wide-association-study-identifies-multiple-susceptibility-loci-for-multiple-myeloma
#4
Jonathan S Mitchell, Ni Li, Niels Weinhold, Asta Försti, Mina Ali, Mark van Duin, Gudmar Thorleifsson, David C Johnson, Bowang Chen, Britt-Marie Halvarsson, Daniel F Gudbjartsson, Rowan Kuiper, Owen W Stephens, Uta Bertsch, Peter Broderick, Chiara Campo, Hermann Einsele, Walter A Gregory, Urban Gullberg, Marc Henrion, Jens Hillengass, Per Hoffmann, Graham H Jackson, Ellinor Johnsson, Magnus Jöud, Sigurður Y Kristinsson, Stig Lenhoff, Oleg Lenive, Ulf-Henrik Mellqvist, Gabriele Migliorini, Hareth Nahi, Sven Nelander, Jolanta Nickel, Markus M Nöthen, Thorunn Rafnar, Fiona M Ross, Miguel Inacio da Silva Filho, Bhairavi Swaminathan, Hauke Thomsen, Ingemar Turesson, Annette Vangsted, Ulla Vogel, Anders Waage, Brian A Walker, Anna-Karin Wihlborg, Annemiek Broyl, Faith E Davies, Unnur Thorsteinsdottir, Christian Langer, Markus Hansson, Martin Kaiser, Pieter Sonneveld, Kari Stefansson, Gareth J Morgan, Hartmut Goldschmidt, Kari Hemminki, Björn Nilsson, Richard S Houlston
Multiple myeloma (MM) is a plasma cell malignancy with a significant heritable basis. Genome-wide association studies have transformed our understanding of MM predisposition, but individual studies have had limited power to discover risk loci. Here we perform a meta-analysis of these GWAS, add a new GWAS and perform replication analyses resulting in 9,866 cases and 239,188 controls. We confirm all nine known risk loci and discover eight new loci at 6p22.3 (rs34229995, P=1.31 × 10(-8)), 6q21 (rs9372120, P=9...
July 1, 2016: Nature Communications
https://www.readbyqxmd.com/read/27264815/-snp-array-and-cytogenetic-analysis-of-a-patient-with-unexplained-mental-retardation
#5
Nan Bai, Shiyue Mei, Zhenhua Zhao, Xiangdong Kong
OBJECTIVE: To analyze a patient with unexplained mental retardation by using three primer PCR (TP-PCR) and single nucleotide polymorphisms array (SNP-array), and to correlate the genotype with phenotype. METHODS: Peripheral blood sample was taken from the patient for the extraction of DNA. TP-PCR was used to determine the copy number of CGG repeats in the 5'UTR of the FMR1 gene. SNP array was used for high resolution analysis of the patient's genome. RESULTS: TP-PCR has shown no abnormal amplification of CGG in the 5'UTR of FMR1 gene...
June 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27127882/copy-number-variations-in-urine-cell-free-dna-as-biomarkers-in-advanced-prostate-cancer
#6
Yun Xia, Chiang-Ching Huang, Rachel Dittmar, Meijun Du, Yuan Wang, Hongyan Liu, Niraj Shenoy, Liang Wang, Manish Kohli
Genetic profiling of urine cell free DNA (cfDNA) has not been evaluated in advanced prostate cancer. We performed whole genome sequencing of urine cfDNAs to identify tumor-associated copy number variations in urine before and after initiating androgen deprivation therapy in HSPC stage and docetaxel chemotherapy in CRPC stage. A log2 ratio-based copy number analysis detected common genomic abnormalities in prostate cancer including AR amplification in 5/10 CRPC patients. Other abnormalities identified included TMPRSS2-ERG fusion, PTEN gene deletion, NOTCH1 locus amplification along with genomic amplifications at 8q24...
June 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/26927261/prenatal-diagnosis-of-hemivertebrae-a-likely-association-with-7q-deletion
#7
Yan-Qin Song, Min Chen, Zhen-Ling Yang, Wen-Yin He, Wei-Qiang Liu, Ying Li, Ya-Fei Gong, Jia-Yan Wang, Xiao-Fang Sun, Xin-Jie Chen
OBJECTIVE: This study aims to investigate the possible cause of a prenatal case of hemivertebrae with a 7q terminal deletion. CASE REPORT: This case describes a fetus with hemivertebrae in thoracic vertebrae as the sole antenatal sonographic finding. Genetic testing was performed in order to find more information after the abnormal ultrasound finding. The array-based comparative genomic hybridization results showed that the fetus had approximately 6.4 Mb deletion of 7q36...
February 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/26822682/three-new-cases-of-terminal-deletion-of-the-long-arm-of-chromosome-7-and-literature-review-to-correlate-genotype-and-phenotype-manifestations
#8
Seemi Ayub, Macoura Gadji, Kada Krabchi, Sylvie Côté, Jean Gekas, Bruno Maranda, Régen Drouin
Partial monosomy of the long arm of chromosome 7 has been characterized by wide phenotypic manifestations, but holoprosencephaly (HPE) and sacral agenesis have frequently been associated with this chromosomal deletion. A clear relationship between genotype and phenotype remains to be defined in the 7q deletion syndrome. Three patients (1, 2, and 3) were investigated with 7q terminal deletion and compared with similar deletion cases in the literature in order to stratify the phenotypes associated with 7q35 and 7q36 terminal deletion patients...
April 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26749485/novel-copy-number-variants-and-major-limb-reduction-malformation-report-of-three-cases
#9
Hanan E Shamseldin, Shams Anazi, Salma M Wakil, Eissa Faqeih, Heba Y El Khashab, Mustafa A Salih, Mohammad M Al-Qattan, Mais Hashem, Haifa Alsedairy, Fowzan S Alkuraya
Limb reduction malformations are highly heterogeneous in their clinical presentation and so, predicting the underlying mutation on a clinical basis can be challenging. Molecular karyotyping is a powerful genomic tool that has quickly become the mainstay for the study of children with malformation syndromes. We describe three patients with major limb reduction anomalies in whom pathogenic copy number variants were identified on molecular karyotyping. These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11...
May 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26683098/dysregulated-mir-671-5p-cdr1-as-cdr1-vsnl1-axis-is-involved-in-glioblastoma-multiforme
#10
COMPARATIVE STUDY
Davide Barbagallo, Angelo Condorelli, Marco Ragusa, Loredana Salito, Mariangela Sammito, Barbara Banelli, Rosario Caltabiano, Giuseppe Barbagallo, Agata Zappalà, Rosalia Battaglia, Matilde Cirnigliaro, Salvatore Lanzafame, Enrico Vasquez, Rosalba Parenti, Federico Cicirata, Cinzia Di Pietro, Massimo Romani, Michele Purrello
MiR-671-5p is encoded by a gene localized at 7q36.1, a region amplified in human glioblastoma multiforme (GBM), the most malignant brain cancer. To investigate whether expression of miR-671-5p were altered in GBM, we analyzed biopsies from a cohort of forty-five GBM patients and from five GBM cell lines. Our data show significant overexpression of miR-671-5p in both biopsies and cell lines. By exploiting specific miRNA mimics and inhibitors, we demonstrated that miR-671-5p overexpression significantly increases migration and to a less extent proliferation rates of GBM cells...
January 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/26681609/detailed-characterization-of-familial-idiopathic-ventricular-fibrillation-linked-to-the-dpp6-locus
#11
Judith N Ten Sande, Pieter G Postema, S Matthijs Boekholdt, Hanno L Tan, Jeroen F van der Heijden, Natasja M S de Groot, Paul G A Volders, Katja Zeppenfeld, Lucas V A Boersma, Eline A Nannenberg, Imke Christiaans, Arthur A M Wilde
BACKGROUND: Familial idiopathic ventricular fibrillation (IVF) is a severe disease entity and is notoriously difficult to manage because there are no clinical risk indicators for premature cardiac arrest. Previously, we identified a link between familial IVF and a risk haplotype on chromosome 7q36 (involving the arrhythmia gene DPP6). OBJECTIVE: The purpose of this study was to expand our knowledge of familial IVF and to discuss its (extended) clinical characteristics...
April 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/26509444/impact-of-snp-array-karyotyping-on-the-diagnosis-and-the-outcome-of-chronic-myelomonocytic-leukemia-with-low-risk-cytogenetic-features-or-no-metaphases
#12
Laura Palomo, Blanca Xicoy, Olga Garcia, Mar Mallo, Vera Ademà, Marta Cabezón, Montse Arnan, Helena Pomares, María José Larrayoz, María José Calasanz, Jaroslaw P Maciejewski, Dayong Huang, Lee-Yung Shih, Seishi Ogawa, Jose Cervera, Esperanza Such, Rosa Coll, Javier Grau, Francesc Solé, Lurdes Zamora
Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic disorder with heterogeneous clinical, morphological and genetic characteristics. Clonal cytogenetic abnormalities are found in 20-30% of patients with CMML. Patients with low risk cytogenetic features (normal karyotype and isolated loss of Y chromosome) account for ∼80% of CMML patients and often fall into the low risk categories of CMML prognostic scores. We hypothesized that single nucleotide polymorphism arrays (SNP-A) karyotyping could detect cryptic chromosomal alterations with prognostic impact in these subgroup of patients...
February 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/26406417/identification-of-genomic-biomarkers-associated-with-the-clinicopathological-parameters-and-prognosis-of-esophageal-squamous-cell-carcinoma
#13
Zhi-Zhou Shi, Li Shang, Yan-Yi Jiang, Feng Shi, Xin Xu, Ming-Rong Wang, Jia-Jie Hao
BACKGROUND: At present no objective prognostic biomarkers have been established in esophageal squamous cell carcinoma (ESCC). OBJECTIVE: To identify the genomic biomarkers associated with clinicopathological factors and prognosis of ESCCs. METHODS: Real-time PCR was used to analyze the copy number change and mRNA expression of genes. The survival curves were plotted according to Kaplan-Meier method and checked by log-rank test. RESULTS: We revealed the copy number increase of CACNA1C (12p13...
2015: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/26166345/distal-3p-duplication-and-terminal-7q-deletion-associated-with-nuchal-edema-and-cyclopia-in-a-fetus-and-a-review-of-the-literature
#14
REVIEW
Chih-Ping Chen, Ming-Chao Huang, Schu-Rern Chern, Yu-Ling Kuo, Yen-Ni Chen, Peih-Shan Wu, Li-Feng Chen, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: To present perinatal detection of distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus, and to review the literature. MATERIALS AND METHODS: A 32-year-old, G9P0, woman who had experienced eight spontaneous abortions was found to have fetal nuchal edema, alobar holoprosencephaly, and cyclopia by prenatal ultrasound at 15 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with cyclopia...
June 2015: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/26080100/genotypic-and-phenotypic-variation-in-six-patients-with-solitary-median-maxillary-central-incisor-syndrome
#15
Simon Poelmans, Tatsuro Kawamoto, Francesca Cristofoli, Constantinus Politis, Joris Vermeesch, Isabelle Bailleul-Forestier, Greet Hens, Koenraad Devriendt, Anna Verdonck, Carine Carels
Solitary Median Maxillary Central Incisor occurs in 1 of 50,000 live births. It is the mildest manifestation of the holoprosencephaly spectrum and is genetically heterogeneous. Here we report six patients with solitary median maxillary central incisor, and a range of other phenotypic anomalies with different degrees of severity, varying from mild signs of holoprosencephaly to associated intellectual disability, and with different genetic background. Using array comparative genomic hybridization, pathogenic copy number variants were found in three of the six patients...
October 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26043758/identification-of-epigenetic-modifications-that-contribute-to-pathogenesis-in-therapy-related-aml-effective-integration-of-genome-wide-histone-modification-with-transcriptional-profiles
#16
Xinan Holly Yang, Bin Wang, John M Cunningham
BACKGROUND: Therapy-related, secondary acute myeloid leukemia (t-AML) is an increasingly frequent complication of intensive chemotherapy. This malignancy is often characterized by abnormalities of chromosome 7, including large deletions or chromosomal loss. A variety of studies suggest that decreased expression of the EZH2 gene located at 7q36.1 is critical in disease pathogenesis. This histone methyltransferase has been implicated in transcriptional repression through modifying histone H3 on lysine 27 (H3k27)...
2015: BMC Medical Genomics
https://www.readbyqxmd.com/read/26003479/genomic-copy-number-signatures-uncovered-a-genetically-distinct-group-from-adenocarcinoma-and-squamous-cell-carcinoma-in-non-small-cell-lung-cancer
#17
Eunjung Lee, Ji Wook Moon, Xianfu Wang, Chungyeul Kim, Shibo Li, Bong Kyung Shin, Wonkyung Jung, Hyun Koo Kim, Han Kyeom Kim, Ji-Yun Lee
Adenocarcinoma (AC) and squamous cell carcinoma (SCC) of non-small cell lung carcinoma (NSCLC) have different clinical presentations, morphologies, treatments, and prognoses. Recent studies suggested that fundamental genetic alterations related to carcinogenesis of each tumor type may be different. In this study, we investigated the genomic alterations of 47 primary NSCLC samples (22 ACs and 25 SCCs) as well as the corresponding normal tissue using array comparative genomic hybridization. Frequent copy number alterations (CNAs), which were identified in more than 68% of all of the cases, were evaluated in each subtype (SCC and AC), and a CNA signature was established...
August 2015: Human Pathology
https://www.readbyqxmd.com/read/25944787/a-familial-7q36-3-duplication-associated-with-agenesis-of-the-corpus-callosum
#18
Keith Wong, Randal Moldrich, Matthew Hunter, Matthew Edwards, David Finlay, Sheridan O'Donnell, Tom MacDougall, Nicole Bain, Benjamin Kamien
Small chromosomal duplications involving 7q36.3 have rarely been reported. This clinical report describes four individuals from a three-generation family with agenesis of the corpus callosum (ACC) and a 0.73 Mb duplication of 7q36.3 detected by array CGH. The 7q36.3 duplication involves two genes: RNA Binding Motif Protein 33 (RBM33) and Sonic Hedgehog (SHH). Most affected family members had mild intellectual disability or borderline intellectual functioning, macrocephaly, a broad forehead, and widely spaced eyes...
September 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25832818/integrated-copy-number-and-gene-expression-profiling-analysis-of-epstein-barr-virus-positive-diffuse-large-b-cell-lymphoma
#19
Heejei Yoon, Sanghui Park, Hyunjeong Ju, Sang Yun Ha, InSuk Sohn, Jisuk Jo, In-Gu Do, Sookee Min, Seok Jin Kim, Won Seog Kim, Hae Yong Yoo, Young Hyeh Ko
Viral oncogenes and host immunosenescence have been suggested as causes of Epstein-Barr virus-positive diffuse large B-cell lymphoma (EBV + DLBCL) of the elderly. To investigate the molecular genetic basis of immune evasion and tumor outgrowth, we analyzed copy number alterations (CNAs) and gene expression profiles in EBV + DLBCL samples compared with EBV - DLBCL. There were relatively few genomic alterations in EBV + DLBCL compared with those detected in EBV-negative DLBCL. The most frequent CNAs (>30%) in EBV + DLBCLs were gains at 1q23...
June 2015: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/25807191/discordant-type-i-preaxial-polydactyly-in-monozygotic-twins-on-the-same-hand-a-case-report
#20
Zhi Yang Ng, Po Yi Sau, Gale Jue-Shuang Lim
There are 4 types of preaxial polydactyly (PPD), and type I (PPD-I), also known as thumb duplication, is the most common. This frequently encountered condition has since been further described and classified by Wassel based on the level of duplication of skeletal anatomy. Genetic studies have localized possible candidate gene(s) for PPD types II to IV to the chromosomal region 7q36 but the current literature attributes PPD-I to isolated, spontaneous mutations typically with unilateral involvement only. Recent epidemiological studies have also suggested nongenetic causes for PPD-I including social and environmental factors...
October 2015: Annals of Plastic Surgery
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