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https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#1
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28636094/characterization-of-clonal-philadelphia-negative-cytogenetic-abnormalities-in-a-large-cohort-of-chronic-myeloid-leukemia
#2
Xiangjun Chen, Jine Zheng, Kaiwei Liang, Yanli He, Wen Du, Juan Li, Wei Liu, Yanjie Hu, Junxia Yao
OBJECTIVES: Clonal Philadelphia-negative Cytogenetic Abnormalities (CPCA) have been reported in chronic myeloid leukaemia (CML) patients treated with either interferon or tyrosine kinase inhibitor (TKI). However, the incidences and types of these cytogenetic abnormalities after treatment vary due to the limited populations enrolled. METHODS: We analysed the frequency and types of CPCA in a cohort of 607 CML patients in the chronic phase after TKI treatment. We also followed up these CPCA with a median of 31...
June 21, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28629449/delineating-the-genetic-heterogeneity-of-oca-in-hungarian-patients
#3
Beáta Fábos, Katalin Farkas, Lola Tóth, Adrienn Sulák, Kornélia Tripolszki, Mariann Tihanyi, Réka Németh, Krisztina Vas, Zsanett Csoma, Lajos Kemény, Márta Széll, Nikoletta Nagy
BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated OCA forms (OCA 1-7). METHODS: The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4. We aimed to investigate genes responsible for the development of these OCA forms in Hungarian OCA patients (n = 13)...
June 19, 2017: European Journal of Medical Research
https://www.readbyqxmd.com/read/28629280/absent-ductus-venosus-case-series-from-two-tertiary-centres
#4
Giuseppe Maria Maruotti, Gabriele Saccone, M D Andrea Ciardulli, Laura Letizia Mazzarelli, Vincenzo Berghella, M D Pasquale Martinelli
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations. METHODS: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes. RESULTS: A total of six cases with prenatally diagnosed ADV were identified...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28614305/bap1-regulates-ip3r3-mediated-ca-2-flux-to-mitochondria-suppressing-cell-transformation
#5
Angela Bononi, Carlotta Giorgi, Simone Patergnani, David Larson, Kaitlyn Verbruggen, Mika Tanji, Laura Pellegrini, Valentina Signorato, Federica Olivetto, Sandra Pastorino, Masaki Nasu, Andrea Napolitano, Giovanni Gaudino, Paul Morris, Greg Sakamoto, Laura K Ferris, Alberto Danese, Andrea Raimondi, Carlo Tacchetti, Shafi Kuchay, Harvey I Pass, El Bachir Affar, Haining Yang, Paolo Pinton, Michele Carbone
BRCA1-associated protein 1 (BAP1) is a potent tumour suppressor gene that modulates environmental carcinogenesis. All carriers of inherited heterozygous germline BAP1-inactivating mutations (BAP1(+/-)) developed one and often several BAP1(-/-) malignancies in their lifetime, mostly malignant mesothelioma, uveal melanoma, and so on. Moreover, BAP1-acquired biallelic mutations are frequent in human cancers. BAP1 tumour suppressor activity has been attributed to its nuclear localization, where it helps to maintain genome integrity...
June 22, 2017: Nature
https://www.readbyqxmd.com/read/28611040/%C3%AE-catenin-is-a-candidate-therapeutic-target-for-myeloid-neoplasms-with-del-5q
#6
Liping Li, Yue Sheng, Wenshu Li, Chao Hu, Nupur Mittal, Kaoru Tohyama, Amber Seba, Youyang Zhao, Howard Ozer, Tongyu Zhu, Zhijian Qian
Deletion of the chromosome 5q [del(5q)] is one of the most common cytogenetic abnormalities observed in patients with de novo myelodysplastic syndromes (MDS) and therapy-related MDS or acute myeloid leukemia (t-MDS/tAML). Emerging evidence indicates that activation of the Wnt/β-catenin pathway contributes to the development of myeloid neoplasms with del(5q). Whether β-catenin is a potential therapeutic target for myeloid neoplasms with del(5q) has yet to be evaluated. Here we report that genetic deletion of a single allele of β-catenin rescues ineffective hematopoiesis in an Apc haploinsufficient mouse model, which recapitulates several characteristic features of the pre-leukemic stage of myeloid neoplasms with a -5/del(5q)...
June 13, 2017: Cancer Research
https://www.readbyqxmd.com/read/28611019/mechanisms-in-endocrinology-aberrations-of-the-x-chromosome-as-cause-of-male-infertility
#7
Albrecht Röpke, Frank Tüttelmann
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or azoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistently with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis...
June 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28607477/gabaa-receptor-subunit-gene-polymorphisms-predict-symptom-based-and-developmental-deficits-in-chinese-han-children-and-adolescents-with-autistic-spectrum-disorders
#8
Shuhan Yang, Xuan Guo, Xiaopeng Dong, Yu Han, Lei Gao, Yuanyuan Su, Wei Dai, Xin Zhang
GABAA receptor subunit genes GABRB3, GABRA5, and GABRG3 located on chromosome 15q11-q13 have been implicated in the etiology of autistic spectrum disorders (ASD). This study intended to investigate the possible role of single-nucleotide polymorphisms (SNPs) present in GABRB3 (rs2081648 and rs1426217), GABRA5 (rs35586628), and GABRG3 (rs208129) genes in ASD susceptibility and symptom-based and developmental phenotypes of ASD in Chinese Han children and adolescents. 99 ASD patients and 231 age- and gender- frequency-matched typical developing (TD) controls were tested by TaqMan® genotyping assay...
June 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28607371/single-point-mutation-of-an-histidine-aspartic-domain-containing-gene-involving-in-chloroplast-ribosome-biogenesis-leads-to-white-fine-stripe-leaf-in-rice
#9
Changwei Ge, Li Wang, Weijun Ye, Liwen Wu, Yongtao Cui, Ping Chen, Jiangjie Pan, Dong Zhang, Jiang Hu, Dali Zeng, Guojun Dong, Qian Qian, Longbiao Guo, Dawei Xue
Plant leaves are a crucial organ associated closely with chloroplast development, photosynthesis rate and crop productivity. In this study, a white fine stripe leaf 1 (wfsl1) mutant was isolated and characterized from the japonica rice Zhonghua11 (ZH11) after ethyl methanesulfonate mutagenesis. The wfsl1 displayed white fine stripe leaves since tillering stage and abnormal chloroplast structure. Map-based cloning and Bioinformatic analysis indicated that WFSL1 on chromosome 1 contains an "A" to "T" substitution in protein coding region, and encodes a putative metal-dependent phosphohydrolase with HD domain at the N-terminus...
June 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28604949/-the-value-of-a-novel-prenatal-diagnosis-model-with-combination-of-karyotyping-and-bacs-on-beads-tm-technique
#10
Kai Mou, Yi Liu, Xin Wei
OBJECTIVE: To explore the value of a novel prenatal diagnosis model using combined chromosomal karyotyping and BACs-on-Beads(TM)(BoBs), a newly-developed technique. METHODS: 1048 single pregnancy pregnant women with various diagnostic indications were performed amniocentesis for prenatal diagnosis with karyotyping and BoBs simultaneously. RESULTS: Among 1047 successfully cultured specimens, 50 chromosomal abnormalities were identified with BoBs, including 43 common chromosomal trisomies, 3 chimeric chromosomes and 4 structural abnormalities, of which 3 microdeletions/microduplications were not detected with karyotyping...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28601532/genetics-of-atrial-fibrillation-state-of-the-art-in-2017
#11
REVIEW
Diane Fatkin, Celine F Santiago, Inken G Huttner, Steven A Lubitz, Patrick T Ellinor
Genetic variation is an important determinant of atrial fibrillation (AF) susceptibility. Numerous rare variants in protein-coding sequences of genes have been associated with AF in families and in early-onset cases, and chromosomal loci harbouring common risk variants have been mapped in AF cohorts. Many of these loci are in non-coding regions of the human genome and are thought to contain regulatory sequences that modulate gene expression. Disease genes implicated to date have predominantly encoded cardiac ion channels, with predicted mutation effects on the atrial action potential duration...
May 11, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28600324/reconstitution-of-the-oocyte-nucleolus-in-mice-by-a-single-nucleolar-protein-npm2
#12
Sugako Ogushi, Kazuo Yamagata, Chikashi Obuse, Keiko Furuta, Teruhiko Wakayama, Martin M Matzuk, Mitinori Saitou
The mammalian oocyte nucleolus, the most prominent subcellular organelle in the oocyte, is vital in early development, yet its key functions and constituents remain unclear. We show here that the parthenotes/zygotes derived from enucleolated oocytes exhibited abnormal heterochromatin formation around parental peri-centromeric DNAs, which led to a significant mitotic delay and frequent chromosome mis-segregation upon the first mitotic division. A proteomic analysis identified NPM2 as a dominant component of the oocyte nucleolus...
June 9, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28600058/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-11
#13
Chih-Ping Chen, Ming Chen, Pu-Tsui Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Shun-Ping Chang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 11. CASE REPORT: A 37-year-old, gravida 3, para 2, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[18]/46,XX[4]. The parental karyotypes were normal. Level II ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes revealed no genomic imbalance...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28599093/clinical-and-molecular-cytogenetic-characterization-of-four-unrelated-patients-carrying-2p14-microdeletions
#14
Marie-Laure Mathieu, Caroline Demily, Sandra Chantot-Bastaraud, Alexandra Afenjar, Cyril Mignot, Joris Andrieux, Marion Gerard, Jaume Catala-Mora, Pierre Simon Jouk, Audrey Labalme, Patrick Edery, Damien Sanlaville, Massimiliano Rossi
We report the clinical and molecular cytogenetic characterization of four unrelated patients from France and Spain, carrying 2p14 microdeletions and presenting with intellectual disability and dysmorphisms. 2p14 microdeletions are very rare. Seven patients have been reported so far harboring deletions including 2p14p15 and encompassing OTX1, whose haploinsufficiency is frequently associated with genitourinary defects. To date, only one patient has been reported carrying a more proximal 2p14 microdeletion which does not include OTX1...
June 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28597778/genomic-stability-of-pulmonary-artery-endothelial-colony-forming-cells-in-culture
#15
Kylie M Drake, Chiara Federici, Heng T Duong, Suzy A Comhair, Serpil C Erzurum, Kewal Asosingh, Micheala A Aldred
Pulmonary vascular remodeling, including proliferation and migration of pulmonary artery endothelial cells (PAEC), is a pathologic hallmark of pulmonary arterial hypertension (PAH). Multiple studies have shown evidence of increased levels of DNA damage and lineage-specific genetic changes in PAH lung vascular cells, suggesting increased genomic instability. Highly proliferative endothelial colony-forming cell (ECFC) clones can be isolated from PAEC. Here we utilized ECFC to track chromosomal copy number of 20 PAH and eight control clones across serial passages using genome-wide microarrays...
April 2017: Pulmonary Circulation
https://www.readbyqxmd.com/read/28591503/-cytogenetics-of-myelodysplastic-syndromes-and-its-impact-as-prognostic-factor
#16
César Borjas-Gutiérrez, Martín Daniel Domínguez-Cruz, Juan Ramón González-García
Myelodysplastic syndromes (MDS) are a group of disorders of the hematopoietic stem cell. They are characterized by cytopenia(s), dysplasia of one or more cell lines, ineffective hematopoiesis, and an increased risk for developing acute myelogenous leukemia. The classification of MDS has been complicated due to the great heterogeneity in clinical phenotype as well as in the morphological and cytogenetic characteristics. The prognostic value of cytogenetic abnormalities in MDS has been analyzed in multicenter studies...
July 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28589176/arhgef9-disease-phenotype-clarification-and-genotype-phenotype-correlation
#17
Michael Alber, Vera M Kalscheuer, Elysa Marco, Elliott Sherr, Gaetan Lesca, Marianne Till, Gyri Gradek, Antje Wiesener, Christoph Korenke, Sandra Mercier, Felicitas Becker, Toshiyuki Yamamoto, Stephen W Scherer, Christian R Marshall, Susan Walker, Usha R Dutta, Ashwin B Dalal, Vanessa Suckow, Payman Jamali, Kimia Kahrizi, Hossein Najmabadi, Berge A Minassian
OBJECTIVE: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. METHODS: Patients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the literature. Detailed medical history and examination findings were obtained via a standardized questionnaire, or if this was not possible by reviewing the published phenotypic features. RESULTS: A total of 18 patients (including 5 females) were identified...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28586709/the-motor-repertoire-in-3-to-5-month-old-infants-with-down-syndrome
#18
Dafne Herrero, Christa Einspieler, Carolina Y Panvequio Aizawa, Akmer Mutlu, Hong Yang, Alice Nogolová, Jasmin Pansy, Karin Nielsen-Saines, Peter B Marschik
BACKGROUND: Even though Down syndrome is the most common chromosomal cause of intellectual disability, studies on early development are scarce. AIM: To describe movements and postures in 3- to 5-month-old infants with Down syndrome and assess the relation between pre- and perinatal risk factors and the eventual motor performance. METHODS AND PROCEDURES: Exploratory study; 47 infants with Down syndrome (26 males, 27 infants born preterm, 22 infants with congenital heart disease) were videoed at 10-19 weeks post-term (median=14 weeks)...
June 3, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28586082/otillr%C3%A3-cklig-kunskap-om-samband-mellan-k%C3%A3-nskromosom%C3%A2-%C3%A2-avvikelser-och-psykiatriska-diagnoser-viktigt-att-barn-och-unga-utreds-och-f%C3%A3-r-r%C3%A3-tt-omh%C3%A3-ndertagande
#19
Hanna Björlin Avdic, MaiBritt Giacobini, Britt-Marie Anderlid, Ann Nordgren, Louise Frisén
Sex chromosome abnormalities are among the most common genetic changes. The manifestations vary and may include growth abnormalities, specific appearance features, and other endocrinological and physical disorders, but also delayed psychomotor development, learning disabilities, and psychiatric conditions including ADHD and autism spectrum disorders. Increased knowledge about the relationship between sex chromosome abnormalities, development and psychiatric conditions would enable improved care of these patients...
June 2, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28584974/high-resolution-mapping-of-qtls-for-heat-tolerance-in-rice-using-a-5k-snp-array
#20
Shanmugavadivel Ps, Amitha Mithra Sv, Chandra Prakash, Ramkumar Mk, Ratan Tiwari, Trilochan Mohapatra, Nagendra Kumar Singh
BACKGROUND: Heat stress is one of the major abiotic threats to rice production, next to drought and salinity stress. Incidence of heat stress at reproductive phase of the crop results in abnormal pollination leading to floret sterility, low seed set and poor grain quality. Identification of QTLs and causal genes for heat stress tolerance at flowering will facilitate breeding for improved heat tolerance in rice. In the present study, we used 272 F8 recombinant inbred lines derived from a cross between Nagina22, a well-known heat tolerant Aus cultivar and IR64, a heat sensitive popular Indica rice variety to map the QTLs for heat tolerance...
December 2017: Rice
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