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https://www.readbyqxmd.com/read/28629661/cornelia-de-lange-syndrome-congenital-heart-disease-in-149-patients
#1
Ariadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, María Hernández Marcos, Feliciano J Ramos Fuentes, Juan Pie Juste
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28588001/successful-growth-hormone-therapy-in-cornelia-de-lange-syndrome
#2
Michael de Graaf, Sarina G Kant, Jan Maarten Wit, Egbert Johan Willem Redeker, Gijs Willem Eduard Santen, Annemieke Johanna Maria Henriëtta Verkerk, André Gerardus Uitterlinden, Monique Losekoot, Wilma Oostdijk
Cornelia de Lange Syndrome (CdLS) is a heterogeneous syndrome, both clinically and genetically, in its classical form characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the Cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge there are no reports on the effect of recombinant human GH (r-hGH) treatment in CdLS patients...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28548707/phenotypes-and-genotypes-in-individuals-with-smc1a-variants
#3
Sylvia Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard, Alice Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valerie Cormier-Daire, Matthew A Deardorff, Karin Diderich, Mariet Elting, Anthonie van Essen, David Fitz Patrick, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Katta M Girisha, Yvonne Hilhorst-Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Jo Moss, Sarah E Noon, Chris Oliver, Ilaria Parenti, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara L Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C Hennekam
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype...
May 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28472652/de-novo-coding-variants-are-strongly-associated-with-tourette-disorder
#4
A Jeremy Willsey, Thomas V Fernandez, Dongmei Yu, Robert A King, Andrea Dietrich, Jinchuan Xing, Stephan J Sanders, Jeffrey D Mandell, Alden Y Huang, Petra Richer, Louw Smith, Shan Dong, Kaitlin E Samocha, Benjamin M Neale, Giovanni Coppola, Carol A Mathews, Jay A Tischfield, Jeremiah M Scharf, Matthew W State, Gary A Heiman
Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2...
May 3, 2017: Neuron
https://www.readbyqxmd.com/read/28425213/genotype-phenotype-correlations-in-cornelia-de-lange-syndrome-behavioral-characteristics-and-changes-with-age
#5
Joanna Moss, Jessica Penhallow, Morad Ansari, Stephanie Barton, David Bourn, David R FitzPatrick, Judith Goodship, Peter Hammond, Catherine Roberts, Alice Welham, Chris Oliver
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex have been identified in up to 70% of individuals. Genetic cause remains unknown for a proportion of individuals. There is substantial heterogeneity in all aspects of CdLS but very little is known about what predicts phenotypic heterogeneity...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28241484/mrna-quantification-of-nipbl-isoforms-a-and-b-in-adult-and-fetal-human-tissues-and-a-potentially-pathological-variant-affecting-only-isoform-a-in-two-patients-with-cornelia-de-lange-syndrome
#6
Beatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, Torkild Visnes, Christopher Bot, Paulino Gómez-Puertas, Frank J Kaiser, Feliciano J Ramos, Lena Ström, Juan Pié
Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction)...
February 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28174417/amkl-chimeric-transcription-factors-are-potent-inducers-of-leukemia
#7
J Dang, S Nance, J Ma, J Cheng, M P Walsh, P Vogel, J Easton, G Song, M Rusch, A L Gedman, C Koss, J R Downing, T A Gruber
Acute megakaryoblastic leukemia in patients without Down syndrome is a rare malignancy with a poor prognosis. RNA sequencing of fourteen pediatric cases previously identified novel fusion transcripts that are predicted to be pathologic including CBFA2T3-GLIS2, GATA2-HOXA9, MN1-FLI, and NIPBL-HOXB9. In contrast to CBFA2T3-GLIS2 which is insufficient to induce leukemia, we demonstrate that the introduction of GATA2-HOXA9, MN1-FLI1 or NIPBL-HOXB9 into murine bone marrow induces overt disease in syngeneic transplant models...
February 8, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28167679/independent-mechanisms-recruit-the-cohesin-loader-protein-nipbl-to-sites-of-dna-damage
#8
Christopher Bot, Annika Pfeiffer, Fosco Giordano, Dharani E Manjeera, Nico P Dantuma, Lena Ström
NIPBL is required to load the cohesin complex on to DNA. While the canonical role of cohesin is to couple replicated sister chromatids together until the onset of mitosis, it also promotes tolerance to DNA damage. Here, we show that NIPBL is recruited to DNA damage throughout the cell cycle via independent mechanisms, influenced by type of damage. First, the heterochromatin protein HP1γ (also known as CBX3) recruits NIPBL to DNA double-strand breaks (DSBs) through the corresponding HP1-binding motif within the N-terminus...
March 15, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28120103/mutations-in-chromatin-regulators-functionally-link-cornelia-de-lange-syndrome-and-clinically-overlapping-phenotypes
#9
Ilaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, Sara Ruiz Gil, Ingrid Bader, Diana Braunholz, Nuria C Bramswig, Cristina Gervasini, Lidia Larizza, Lutz Pfeiffer, Ferda Ozkinay, Feliciano Ramos, Benedikt Reiz, Olaf Rittinger, Tim M Strom, Erwan Watrin, Kerstin Wendt, Dagmar Wieczorek, Bernd Wollnik, Carolina Baquero-Montoya, Juan Pié, Matthew A Deardorff, Gabriele Gillessen-Kaesbach, Frank J Kaiser
The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS) belongs to this class of disorders and is caused by mutations in different subunits or regulators of the cohesin complex...
March 2017: Human Genetics
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#10
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28041881/nipbl-interacts-with-zfp609-and-the-integrator-complex-to-regulate-cortical-neuron-migration
#11
Debbie L C van den Berg, Roberta Azzarelli, Koji Oishi, Ben Martynoga, Noelia Urbán, Dick H W Dekkers, Jeroen A Demmers, François Guillemot
Mutations in NIPBL are the most frequent cause of Cornelia de Lange syndrome (CdLS), a developmental disorder encompassing several neurological defects, including intellectual disability and seizures. How NIPBL mutations affect brain development is not understood. Here we identify Nipbl as a functional interaction partner of the neural transcription factor Zfp609 in brain development. Depletion of Zfp609 or Nipbl from cortical neural progenitors in vivo is detrimental to neuronal migration. Zfp609 and Nipbl overlap at genomic binding sites independently of cohesin and regulate genes that control cortical neuron migration...
January 18, 2017: Neuron
https://www.readbyqxmd.com/read/27797080/zebrafish-as-a-model-to-study-cohesin-and-cohesinopathies
#12
Akihiko Muto, Thomas F Schilling
The cohesin protein complex regulates multiple cellular events including sister chromatid cohesion and gene expression. Several distinct human diseases called cohesinopathies have been associated with genetic mutations in cohesin subunit genes or genes encoding regulators of cohesin function. Studies in different model systems, from yeast to mouse have provided insights into the molecular mechanisms of action of cohesin/cohesin regulators and their implications in the pathogenesis of cohesinopathies. The zebrafish has unique advantages for embryonic analyses and quantitative gene knockdown with morpholinos during the first few days of development, in contrast to knockouts of cohesin regulators in flies or mammals, which are either lethal as homozygotes or dramatically compensated for in heterozygotes...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27797076/resolving-the-genomic-localization-of-the-kollerin-cohesin-loader-complex
#13
Kerstin S Wendt
The kollerin complex, consisting of Scc2/Scc4 in yeast and Nipbl/Mau2 in vertebrates, is crucial for the chromatin-association of the cohesin complex and therefore for the critical functions of cohesin in cell division, transcriptional regulation and chromatin organisation. Despite the recent efforts to determine the genomic localization of the kollerin complex in different cell lines, major questions still remain unresolved, for instance where cohesin is actually loaded onto chromatin. Further, Nipbl seems to have also additional roles, for instance as transcription factor...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27637763/copy-number-variant-analysis-of-classic-heterotaxy-highlights-the-importance-of-body-patterning-pathways
#14
Erin M Hagen, Robert J Sicko, Denise M Kay, Shannon L Rigler, Aggeliki Dimopoulos, Shabbir Ahmad, Margaret H Doleman, Ruzong Fan, Paul A Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Gary M Shaw, Laura L Jelliffe-Pawlowski, James L Mills
Classic heterotaxy consists of congenital heart defects with abnormally positioned thoracic and abdominal organs. We aimed to uncover novel, genomic copy-number variants (CNVs) in classic heterotaxy cases. A microarray containing 2.5 million single-nucleotide polymorphisms (SNPs) was used to genotype 69 infants (cases) with classic heterotaxy identified from California live births from 1998 to 2009. CNVs were identified using the PennCNV software. We identified 56 rare CNVs encompassing genes in the NODAL (NIPBL, TBX6), BMP (PPP4C), and WNT (FZD3) signaling pathways, not previously linked to classic heterotaxy...
December 2016: Human Genetics
https://www.readbyqxmd.com/read/27606622/the-hole-and-the-whole-lessons-from-manipulation-of-nipbl-deficiency
#15
Bruce D Gelb
Congenital heart defects (CHDs) affect 2%-3% of newborns and remain challenging clinically. There is an ongoing project to elucidate the causes of CHDs, focusing primarily on genetics as dictated by the epidemiology. In a paper published in this issue, Santos and colleagues describe studies of Cornelia de Lange syndrome-associated secundum atrial septal defects (ASDs) caused by NIPBL mutations, undertaken with a targeted trapping allele in mice. They show that Nipbl haploinsufficiency in either of two cell populations was sufficient to engender ASDs but that expression solely in either one of those populations was sufficient to rescue them...
September 2016: PLoS Biology
https://www.readbyqxmd.com/read/27606604/conditional-creation-and-rescue-of-nipbl-deficiency-in-mice-reveals-multiple-determinants-of-risk-for-congenital-heart-defects
#16
Rosaysela Santos, Shimako Kawauchi, Russell E Jacobs, Martha E Lopez-Burks, Hojae Choi, Jamie Wikenheiser, Benedikt Hallgrimsson, Heather A Jamniczky, Scott E Fraser, Arthur D Lander, Anne L Calof
Elucidating the causes of congenital heart defects is made difficult by the complex morphogenesis of the mammalian heart, which takes place early in development, involves contributions from multiple germ layers, and is controlled by many genes. Here, we use a conditional/invertible genetic strategy to identify the cell lineage(s) responsible for the development of heart defects in a Nipbl-deficient mouse model of Cornelia de Lange Syndrome, in which global yet subtle transcriptional dysregulation leads to development of atrial septal defects (ASDs) at high frequency...
September 2016: PLoS Biology
https://www.readbyqxmd.com/read/27576763/structural-aspects-of-hdac8-mechanism-and-dysfunction-in-cornelia-de-lange-syndrome-spectrum-disorders
#17
REVIEW
Matthew A Deardorff, Nicholas J Porter, David W Christianson
Cornelia de Lange Syndrome (CdLS) encompasses a broad spectrum of phenotypes characterized by distinctive craniofacial abnormalities, limb malformations, growth retardation, and intellectual disability. CdLS spectrum disorders are referred to as cohesinopathies, with ∼70% of patients having a mutation in a gene encoding a core cohesin protein (SMC1A, SMC3, or RAD21) or a cohesin regulatory protein (NIPBL or HDAC8). Notably, the regulatory function of HDAC8 in cohesin biology has only recently been discovered...
November 2016: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/27445573/an-adverse-reaction-in-the-pediatric-sleep-laboratory
#18
Diana Reppucci, Debra Medin, Suhail Al-Saleh, Mary Jane Smith, Jill Barter, Reshma Amin
We present a case of a 15-month-old boy with Cornelia de Lange Syndrome (NIPBL gene mutation). On a PSG, central sleep apnea (central apnea-hypopnea index of 19/hour) and nocturnal hypoventilation (transcutaneous CO2 > 50 mmHg for 53% of the night) were found. A positive pressure initiation study was aborted because the patient developed a serious adverse reaction. The differential diagnosis included a skin fragility condition versus an allergic contact dermatitis to the interface; this could be from the povidone-iodine solution used to clean the NiPPV interface or from the plastic of the interface itself...
2016: Canadian Respiratory Journal: Journal of the Canadian Thoracic Society
https://www.readbyqxmd.com/read/27291393/unusual-association-of-non-anaplastic-wilms-tumor-and-cornelia-de-lange-syndrome-case-report
#19
Claudia Santoro, Andrea Apicella, Fiorina Casale, Angela La Manna, Martina Di Martino, Daniela Di Pinto, Cristiana Indolfi, Silverio Perrotta
BACKGROUND: Cornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome. Only one post-mortem case report has described an association between Wilms tumor and Cornelia de Lange syndrome. Here, we describe the first case of a living child with both diseases. CASE PRESENTATION: Non-anaplastic triphasic nephroblastoma was diagnosed in a patient carrying a not yet reported mutation in NIPBL (c...
2016: BMC Cancer
https://www.readbyqxmd.com/read/27207471/cohesin-mutations-in-human-cancer
#20
REVIEW
Victoria K Hill, Jung-Sik Kim, Todd Waldman
Cohesin is a highly-conserved protein complex that plays important roles in sister chromatid cohesion, chromatin structure, gene expression, and DNA repair. In humans, cohesin is a ubiquitously expressed, multi-subunit protein complex composed of core subunits SMC1A, SMC3, RAD21, STAG1/2 and regulatory subunits WAPL, PDS5A/B, CDCA5, NIPBL, and MAU2. Recent studies have demonstrated that genes encoding cohesin subunits are somatically mutated in a wide range of human cancers. STAG2 is the most commonly mutated subunit, and in a recent analysis was identified as one of only 12 genes that are significantly mutated in four or more cancer types...
August 2016: Biochimica et Biophysica Acta
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