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craniofacial malformation

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https://www.readbyqxmd.com/read/28226328/a-de-novo-pericentric-inversion-in-chromosome-4-associated-with-disruption-of-pitx2-and-a-microdeletion-in-4p15-2-in-a-patient-with-axenfeld-rieger-syndrome-and-developmental-delay
#1
Živilė Maldžienė, Eglė Preikšaitienė, Salomėja Ignotienė, Natalija Kapitanova, Algirdas Utkus, Vaidutis Kučinskas
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements...
February 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28217040/multi-species-ontologies-of-the-craniofacial-musculoskeletal-system
#2
Jose L V Mejino, Landon T Detwiler, Timothy C Cox, James F Brinkley
We created the Ontology of Craniofacial Development and Malformation (OCDM) [1] to provide a unifying framework for organizing and integrating craniofacial data ranging from genes to clinical phenotypes from multi-species. Within this framework we focused on spatio-structural representation of anatomical entities related to craniofacial development and malformation, such as craniosynostosis and midface hypoplasia. Animal models are used to support human studies and so we built multi-species ontologies that would allow for cross-species correlation of anatomical information...
August 2016: CEUR Workshop Proceedings
https://www.readbyqxmd.com/read/28215996/morphological-and-behavioral-responses-of-zebrafish-after-24h-of-ketamine-embryonic-exposure
#3
Luís M Félix, Cindy Serafim, Maria J Martins, Ana M Valentim, Luís M Antunes, Manuela Matos, Ana M Coimbra
Ketamine, one anesthetic used as an illicit drug, has been detected both in freshwater and marine ecosystems. However, knowledge of its impact on aquatic life is still limited. This study aimed to test its effects in zebrafish embryos by analyzing its time- and dose-dependent developmental toxicity and long-term behavioral changes. The 24h-LC50 was calculated from percent survival using probit analysis. Based on the 24h-LC50 (94.4mgL(-1)), embryos (2hour post-fertilization - hpf) were divided into four groups, including control, and exposed for 24h to ketamine concentrations of 50, 70 or 90mgL(-1)...
February 16, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28213462/discovery-diagnosis-and-etiology-of-craniofacial-ciliopathies
#4
Elizabeth N Schock, Samantha A Brugmann
Seventy-five percent of congenital disorders present with some form of craniofacial malformation. The frequency and severity of these malformations makes understanding the etiological basis crucial for diagnosis and treatment. A significant link between craniofacial malformations and primary cilia arose several years ago with the determination that ∼30% of ciliopathies could be primarily defined by their craniofacial phenotype. The link between the cilium and the face has proven significant, as several new "craniofacial ciliopathies" have recently been diagnosed...
February 17, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#5
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28195132/analysis-of-craniocardiac-malformations-in-xenopus-using-optical-coherence-tomography
#6
Engin Deniz, Stephan Jonas, Michael Hooper, John N Griffin, Michael A Choma, Mustafa K Khokha
Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28177159/connexin43-mutant-patient-derived-induced-pluripotent-stem-cells-exhibit-altered-differentiation-potential
#7
Jessica L Esseltine, Qing Shao, Courtney Brooks, Jacinda Sampson, Dean H Betts, Cheryle Séguin, Dale W Laird
We present for the first time the generation of induced pluripotent stem cells (iPSCs) from a patient with a connexin-linked disease. The importance of gap junctional intercellular communication in bone homeostasis is exemplified by the autosomal dominant developmental disorder oculodentodigital dysplasia (ODDD) which is linked to mutations in the GJA1 (Cx43) gene. ODDD is characterised by craniofacial malformations, ophthalmic deficits, enamel hypoplasia and syndactyly. In addition to harboring a Cx43 p.V216L mutation, ODDD iPSCs exhibit reduced Cx43 mRNA and protein abundance when compared to control iPSCs and display impaired channel function...
February 8, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28132691/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#8
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, Stephan J Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A Shaw, Ankita Patel, Janice L Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M Nugent, James B Gibson, Benjamin Cogné, James R Lupski, Holly A F Stessman, Evan E Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28092970/surgery-of-anterior-skull-base-lesions-in-children
#9
Thomas Karl Hoffmann, Marc Oliver Scheithauer, Fabian Sommer, Jörg Lindemann, Ernst-Johannes Haberl, Ulrike Friebe-Hoffmann, Marie-Nicole Theodoraki
INTRODUCTION: Lesions affecting the anterior skull base represent a rare group of craniofacial pathologies. A tumor of the facial midline, meningitis, or rhinoliquorrhea may be indicative of malformations like dermoid cysts, gliomas, encephaloceles, or nasal fistulas. METHODS: We present a case series of 13 children (4 months to 12 years; 8 males, 5 females) with lesions involving the anterior skull base, which were treated surgically in an interdisciplinary setting...
January 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28087736/imputation-of-orofacial-clefting-data-identifies-novel-risk-loci-and-sheds-light-on-the-genetic-background-of-cleft-lip-%C3%A2-cleft-palate-and-cleft-palate-only
#10
Kerstin U Ludwig, Anne C Böhmer, John Bowes, Miloš Nikolić, Nina Ishorst, Niki Wyatt, Nigel L Hammond, Lina Gölz, Frederic Thieme, Sandra Barth, Hannah Schuenke, Johanna Klamt, Malte Spielmann, Khalid Aldhorae, Augusto Rojas-Martinez, Markus M Nöthen, Alvaro Rada-Iglesias, Michael J Dixon, Michael Knapp, Elisabeth Mangold
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087285/apert-syndrome-a-consensus-on-the-management-of-apert-hands
#11
David A Pettitt, Zeeshaan Arshad, Anuj Mishra, Paul McArthur
INTRODUCTION: Apert Syndrome is a congenital condition characterised by primary craniosynostosis, midfacial malformations and complex symmetrical malformations of the hands and feet. The hands demonstrate one of the most complex collections of congenital upper limb deformities, posing a significant challenge for the paediatric hand surgeon. This study examines the extant literature and current practice of the four UK specialist craniofacial units regarding the management of Apert hands in order to provide a basis for guideline development...
December 10, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28067909/smchd1-mutations-associated-with-a-rare-muscular-dystrophy-can-also-cause-isolated-arhinia-and-bosma-arhinia-microphthalmia-syndrome
#12
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-Ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley, Erica E Davis, David R FitzPatrick, Michael E Talkowski
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism. We discovered shared mutations and comparable DNA hypomethylation patterning between these distinct disorders...
February 2017: Nature Genetics
https://www.readbyqxmd.com/read/28040135/pallister-killian-syndrome-cytogenetics-and-molecular-investigations-of-mosaic-tetrasomy-12p-in-prenatal-chorionic-villus-and-in-amniocytes-strategy-of-prenatal-diagnosis
#13
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28032345/zygomatic-bone-shape-in-intentional-cranial-deformations-a-model-for-the-study-of-the-interactions-between-skull-growth-and-facial-morphology
#14
S Ketoff, F Girinon, S Schlager, M Friess, T Schouman, P Rouch, R H Khonsari
Intentional cranial deformations (ICD) were obtained by exerting external mechanical constraints on the skull vault during the first years of life to permanently modify head shape. The repercussions of ICD on the face are not well described in the midfacial region. Here we assessed the shape of the zygomatic bone in different types of ICDs. We considered 14 non-deformed skulls, 19 skulls with antero-posterior deformation, nine skulls with circumferential deformation and seven skulls with Toulouse deformation...
December 29, 2016: Journal of Anatomy
https://www.readbyqxmd.com/read/28019042/evidence-for-snp-snp-interaction-identified-through-targeted-sequencing-of-cleft-case-parent-trios
#15
Yanzi Xiao, Margaret A Taub, Ingo Ruczinski, Ferdouse Begum, Jacqueline B Hetmanski, Holger Schwender, Elizabeth J Leslie, Daniel C Koboldt, Jeffrey C Murray, Mary L Marazita, Terri H Beaty
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans, affecting 1 in 700 live births. This malformation has a complex etiology where multiple genes and several environmental factors influence risk. At least a dozen different genes have been confirmed to be associated with risk of NSCL/P in previous studies. However, all the known genetic risk factors cannot fully explain the observed heritability of NSCL/P, and several authors have suggested gene-gene (G × G) interaction may be important in the etiology of this complex and heterogeneous malformation...
December 26, 2016: Genetic Epidemiology
https://www.readbyqxmd.com/read/28005737/nasoalveolar-molding-therapy-for-the-treatment-of-unilateral-cleft-lip-and-palate-improves-nasal-symmetry-and-maxillary-alveolar-dimensions
#16
María Gloria Ruíz-Escolano, Adoración Martínez-Plaza, Ricardo Fernández-Valadés, Rosario Cortés-Sánchez, María Angeles Muñoz-Miguelsanz, Eugenio Velasco-Ortega, María Bélen Perez-Ureña, Kamel Matar-Satuf, Antonio José España-López
OBJECTIVE: The aim of this study is to assess the esthetic and morphologic outcomes before surgery using nasoalveolar molding (NAM) therapy in children with unilateral cleft lip and palate. DESIGN: A prospective analysis was performed. SETTING: The study was carried out in the Congenital Malformations Craniofacial and Cleft Lip and Palate Unit, Hospital Virgen de las Nieves, Andalusian Health Service, Granada (Spain). PATIENTS: Twenty consecutively enrolled infants ranging in age from 7 to 30 days with nonsyndromic unilateral cleft lip and palate treated from 2008 to 2012...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27990279/genetic-factors-influencing-risk-to-orofacial-clefts-today-s-challenges-and-tomorrow-s-opportunities
#17
REVIEW
Terri H Beaty, Mary L Marazita, Elizabeth J Leslie
Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which combined represent the largest group of craniofacial malformations in humans with an overall prevalence of one per 1,000 live births. Each of these birth defects shows strong familial aggregation, suggesting a major genetic component to their etiology. Genetic studies of orofacial clefts extend back centuries, but it has proven difficult to define any single etiologic mechanism because many genes appear to influence risk...
2016: F1000Research
https://www.readbyqxmd.com/read/27943041/gestational-di-n-butyl-phthalate-exposure-induced-developmental-and-teratogenic-anomalies-in-rats-a-multigenerational-assessment
#18
P Mahaboob Basha, M J Radha
With the limited but ongoing usage of di-n-butyl phthalate (DBP) as plasticizer, the health effects of both phthalate and its alternatives are far from being understood. Multigenerational effects of phthalates were evaluated in rats upon exposure to DBP, aiming to provide some evidences about its potential in causing developmental teratogenicity. Gestational rats were exposed to DBP (500 mg/kg bw/day) and control groups with olive oil. On the 18th day of gestation, fetuses (F1) isolated from a few dams were subjected to prenatal screening, and the other rats were allowed to litter, and later postnatal screening was made...
December 12, 2016: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#19
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27924582/modeling-rasopathies-with-genetically-modified-mouse-models
#20
Isabel Hernández-Porras, Carmen Guerra
The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1...
2017: Methods in Molecular Biology
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