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American Journal of Medical Genetics. Part A

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https://www.readbyqxmd.com/read/28190301/cornelia-de-lange-syndrome-and-molecular-implications-of-the-cohesin-complex-abstracts-from-the-7th-biennial-scientific-and-educational-symposium-2016
#1
Antonie D Kline, Ian D Krantz, Matthew A Deardorff, Katsuhiko Shirahige, Dale Dorsett, Jennifer L Gerton, Meng Wu, Devanshi Mehta, Jason A Mills, Cheri S Carrico, Sarah Noon, Pamela S Herrera, Julia A Horsfield, Chiara Bettale, Jeremy Morgan, Sylvia A Huisman, Jo Moss, Joseph McCleery, Marco Grados, Blake D Hansen, Siddharth Srivastava, Emily Taylor-Snell, Lynne M Kerr, Olivia Katz, Anne L Calof, Antonio Musio, Alena Egense, Richard E Haaland
Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS...
February 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28190295/high-prevalence-of-fatigue-in-adults-with-a-22q11-2-deletion-syndrome
#2
Elfi Vergaelen, Stephan Claes, Stefan Kempke, Ann Swillen
The 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with high phenotypic variability, including somatic disorders like congenital heart disease and psychiatric disorders such as schizophrenia, anxiety disorders, and mood disorders. Clinical observations suggest that many patients with 22q11.2DS suffer from severe fatigue. However, to the best of our knowledge, no previous study has investigated the potential association between 22q11.2DS and fatigue. Twenty-nine patients (mean age 26.8, 18-38 y) with 22q11...
February 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28190287/a-novel-de-novo-germline-mutation-glu40lys-in-akt3-causes-megalencephaly-with-growth-hormone-deficiency
#3
Masaki Takagi, Kazushige Dobashi, Keiko Nagahara, Mitsuhiro Kato, Gen Nishimura, Ryuji Fukuzawa, Satoshi Narumi, Tomonobu Hasegawa
Germline or somatic gain-of-function mutations in the v-akt murine thymoma viral oncogene homolog 3 (AKT3) have been reported to cause syndromic megalencephaly. We describe a novel germline mutation, p.Glu40Lys, in AKT3. Phenotypically, the patient presented with megalencephaly with hypotonia, apparent connective tissue laxity, and growth hormone (GH) deficiency. To our knowledge, this is the first instance of a patient with megalencephaly with GH deficiency, harboring a germline de novo mutation in AKT3. © 2016 Wiley Periodicals, Inc...
February 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28190284/foramen-magnum-compression-in-coffin-lowry-syndrome-a-case-report
#4
Jariya Upadia, Jerry Oakes, Austin Hamm, Anna C E Hurst, Nathaniel H Robin
Coffin-Lowry syndrome (CLS) is a rare genetic disorder inherited in an X-linked dominant pattern. Common manifestations include intellectual disability, growth retardation, dysmorphic facial features, and variable skeletal anomalies. Here we report a patient who first presented with episodes of apparent life-threatening events (ALTE) found to be caused by hydrocephalus and brainstem compression at the foramen magnum. Together with his small size, short limbs and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of hypochondroplasia...
February 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28181399/mild-achondroplasia-hypochondroplasia-with-acanthosis-nigricans-normal-development-and-a-p-ser348cys-fgfr3-mutation
#5
Natario L Couser, Chetna K Pande, Christie M Turcott, Elaine B Spector, Arthur S Aylsworth, Cynthia M Powell
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p.Ala391Glu) in the FGFR3 gene. The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities...
February 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28181393/blepharocheilodontic-bcd-syndrome-new-insights-on-craniofacial-and-dental-features
#6
Wael Awadh, Anu Kiukkonen, Pekka Nieminen, Sirpa Arte, Kirsti Hurmerinta, David P Rice
Blepharocheilodontic (BCD) syndrome is a rare condition characterized by bilateral cleft lip and palate (BCLP), eyelid abnormalities, and oligodontia. Despite orofacial clefting and oligodontia being central features of the condition, detailed reports of dental and craniofacial characteristics are scarce. The aim of this study was to analyze the dental and craniofacial features in a group of patients with BCD syndrome (three of which were related). Cephalometric radiographic analyses were performed on BCD syndrome patients (all radiographs taken at age 8 years) and compared to 40 randomly selected age-matched controls (20 non-syndromic BCLP, 20 non-cleft)...
February 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28181389/novel-lins1-missense-mutation-in-a-family-with-non-syndromic-intellectual-disability
#7
Jayesh Sheth, Gyan Ranjan, Krati Shah, Riddhi Bhavsar, Frenny Sheth
Newer sequencing technologies decipher molecular variations and increase the knowledge of pathogenesis of complex diseases like intellectual disability (ID), affecting 2-3% of the population. We report a novel family with a missense mutation in LINS1 as a cause for non-syndromic ID. Clinical exome sequencing for ID related genes carried out for a male with dysmorphism, mutism, and cognitive delay was uninformative. Subsequently, "pathogenic" and "likely pathogenic" variants associated with other inherited disorders were searched for as secondary findings...
February 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28168853/prenatal-and-postnatal-presentations-of-corpus-callosum-agenesis-with-polymicrogyria-caused-by-egp5-mutation
#8
Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marlène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi-Buisson
EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28168833/childhood-cancer-predisposition-syndromes-a-concise-review-and-recommendations-by-the-cancer-predisposition-working-group-of-the-society-for-pediatric-oncology-and-hematology
#9
Tim Ripperger, Stefan S Bielack, Arndt Borkhardt, Ines B Brecht, Birgit Burkhardt, Gabriele Calaminus, Klaus-Michael Debatin, Hedwig Deubzer, Uta Dirksen, Cornelia Eckert, Angelika Eggert, Miriam Erlacher, Gudrun Fleischhack, Michael C Frühwald, Astrid Gnekow, Gudrun Goehring, Norbert Graf, Helmut Hanenberg, Julia Hauer, Barbara Hero, Simone Hettmer, Katja von Hoff, Martin Horstmann, Juliane Hoyer, Thomas Illig, Peter Kaatsch, Roland Kappler, Kornelius Kerl, Thomas Klingebiel, Udo Kontny, Uwe Kordes, Dieter Körholz, Ewa Koscielniak, Christof M Kramm, Michaela Kuhlen, Andreas E Kulozik, Britta Lamottke, Ivo Leuschner, Dietmar R Lohmann, Andrea Meinhardt, Markus Metzler, Lüder H Meyer, Olga Moser, Michaela Nathrath, Charlotte M Niemeyer, Rainer Nustede, Kristian W Pajtler, Claudia Paret, Mareike Rasche, Dirk Reinhardt, Olaf Rieß, Alexandra Russo, Stefan Rutkowski, Brigitte Schlegelberger, Dominik Schneider, Reinhard Schneppenheim, Martin Schrappe, Christopher Schroeder, Dietrich von Schweinitz, Thorsten Simon, Monika Sparber-Sauer, Claudia Spix, Martin Stanulla, Doris Steinemann, Brigitte Strahm, Petra Temming, Kathrin Thomay, Andre O von Bueren, Peter Vorwerk, Olaf Witt, Marcin Wlodarski, Willy Wössmann, Martin Zenker, Stefanie Zimmermann, Stefan M Pfister, Christian P Kratz
Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28168832/a-novel-ampd2-mutation-outside-the-amp-deaminase-domain-causes-pontocerebellar-hypoplasia-type-9
#10
Ashley P L Marsh, Patrick Yap, Tiong Tan, Kate Pope, Susan M White, Belinda Chong, George Mcgillivray, Amber Boys, Sarah E M Stephenson, Richard J Leventer, Zornitza Stark, Paul J Lockhart
No abstract text is available yet for this article.
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28168819/the-society-for-craniofacial-genetics-and-developmental-biology-39th-annual-meeting
#11
Jennifer L Fish, Craig Albertson, Matthew P Harris, Scott Lozanoff, Ralph S Marcucio, Joan T Richtsmeier, Paul A Trainor
The Society for Craniofacial Genetics and Developmental Biology (SCGDB) aims to promote education, research, and communication, about normal and abnormal development of the tissues and organs of the head. Membership of the SCGDB is broad and diverse-including clinicians, orthodontists, scientists, and academics-but with all members sharing an interest in craniofacial biology. Each year, the SCGDB hosts a meeting where members can share their latest research, exchange ideas and resources, and build on or establish new collaborations...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28168815/descriptive-study-of-the-complete-blood-count-in-newborn-infants-with-down-syndrome
#12
Francisco Javier Martínez-Macías, Lucina Bobadilla-Morales, Janet González-Cruz, Moisés Quiles-Corona, Alfredo Corona-Rivera, Christian Peña-Padilla, Mireya Orozco-Vela, Rocío Silva-Cruz, Fernando Velarde-Rivera, Jorge Román Corona-Rivera
The usefulness of the complete blood count (CBC) during the first week of life in infants with Down syndrome (DS) has been recognized; however, studies are limited and have evaluated only some of the parameters of the CBC. Here, we report a prospective study of 135 infants with cytogenetically confirmed DS and a reference group of 226 infants without birth defects all born during the period 2009-2015 at the Dr. Juan I. Menchaca Civil Hospital of Guadalajara (Guadalajara, Mexico). The goal was to evaluate hematological findings in the CBC during the first 7 days of life, interpreted according to gestational and postnatal age...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28160419/adams-oliver-syndrome-review-of-the-literature-refining-the-diagnostic-phenotype
#13
Susan Hassed, Shibo Li, John Mulvihill, Christopher Aston, Susan Palmer
The Adams-Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with transverse terminal limb defects (TTLD). Frequencies of associated anomalies are not well characterized. Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. We review 385 previously described individuals (139 non-familial and 246 familial probands and family members) and add clinical data on 13 previously unreported individuals with AOS. In addition to ACC and TTLD, the most commonly associated anomalies included a wide variety of central nervous system (CNS) anomalies and congenital heart defects each seen in 23%...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28160409/developing-a-charge-syndrome-checklist-health-supervision-across-the-lifespan-from-head-to-toe
#14
Carrie-Lee Trider, Angela Arra-Robar, Conny van Ravenswaaij-Arts, Kim Blake
Health supervision and management considerations for individuals with CHARGE syndrome are often complex, and a comprehensive approach is essential. The Atlantic Canadian CHARGE syndrome team developed a checklist organized by body system and age to aid healthcare providers in their approach to the ongoing care of these individuals. The checklist was evaluated qualitatively using a modified Delphi method with widespread consultation from expert healthcare practitioners, parents, and individuals with CHARGE syndrome...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28160403/the-utility-of-alpha-fetoprotein-screening-in-beckwith-wiedemann-syndrome
#15
Kelly A Duffy, Matthew A Deardorff, Jennifer M Kalish
Beckwith-Wiedemann syndrome (BWS) is one of the most common cancer predisposition disorders. As a result, BWS patients receive tumor screening as part of their clinical management. Until recently, this screening has been employed uniformly across all genetic and epigenetic causes of BWS, including the utilization of ultrasonography to detect abdominal tumors and alpha-fetoprotein (AFP) to detect hepatoblastoma. The advancements in our understanding of the genetics and epigenetics leading to BWS has evolved over time, and has led to the development of genotype/phenotype correlations...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28160402/genetic-advances-in-craniosynostosis
#16
Wanda Lattanzi, Marta Barba, Lorena Di Pietro, Simeon A Boyadjiev
Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, that is, nonsyndromic craniosynostosis (NCS), the genetic, and environmental causes of which remain largely unknown. Recent data suggest that, at least some of the midline NCS cases may be explained by two loci inheritance. In approximately 25-30% of patients, craniosynostosis presents as a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signaling pathways...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28160395/a-novel-disorder-of-sex-development-characterized-by-progressive-regression-of-testicular-function-and-cystic-leukoencephalopathy
#17
Massimiliano Rossi, Alexandre Vasiljevic, Audrey Labalme, Frédérique Dijoud, Delphine Mallet-Motak, Carmen Adina Petcu, Renaud Touraine, Christine Vianey-Saban, Laurent Guibaud, Patrick Edery, Damien Sanlaville, Yves Morel
We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antimüllerian hormone in the neonatal period, and no persistent müllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement including bilateral periventricular cysts observed in the anterior part of the frontal horns prenatally and increasing in size and number over time, associated with infra and supratentorial parenchymal atrophy, dilated ventricular system, corpus callosum hypoplasia, severe intellectual disability, and epilepsy...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28157260/incidence-of-fragile-x-syndrome-in-ireland
#18
James J O'Byrne, Michael Sweeney, Deirdre E Donnelly, Deborah M Lambert, Eleanor D Beattie, Celine M Gervin, David E Barton, Sally A Lynch
Described as the commonest single gene cause of learning disability internationally, the incidence of Fragile X syndrome (FXS) has never previously been determined in Ireland. The aim of this work was to determine the observed incidence of FXS in the island of Ireland; the Republic of Ireland (ROI) and Northern Ireland (NI) separately and combined. Ascertainment was achieved for a cross-sectional study by a retrospective, clinical and laboratory database review of positive FXS cases, born in either ROI or NI, between years 2000-2009 inclusive...
February 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28139025/a-de-novo-splice-site-mutation-in-cask-causes-fg-syndrome-4-and-congenital-nystagmus
#19
P Dunn, G P Prigatano, S Szelinger, J Roth, A L Siniard, A M Claasen, R F Richholt, M De Both, J J Corneveaux, A M Moskowitz, C Balak, I S Piras, M Russell, A L Courtright, N Belnap, S Rangasamy, K Ramsey, J M Opitz, D W Craig, V Narayanan, M J Huentelman, I Schrauwen
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties, GI hypomotility, and seizures. Here we present a patient with a de novo carboxyl-terminus splice site mutation in CASK (c.2521-2A>G) and clinical features of the rare FG syndrome-4 (FGS4). We provide further characterization of genotype-phenotype correlations in CASK mutations and the presentation of nystagmus and the FGS4 phenotype. There is considerable variability in clinical phenotype among patients with a CASK mutation, even among variants predicted to have similar functionality...
January 31, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28127940/additional-three-patients-with-smith-mccort-dysplasia-due-to-novel-rab33b-mutations
#20
Smrithi Salian, Tae-Joon Cho, Shubha R Phadke, Kalpana Gowrishankar, Gandham SriLakshmi Bhavani, Anju Shukla, Sujatha Jagadeesh, Ok-Hwa Kim, Gen Nishimura, Katta M Girisha
Smith-McCort dysplasia (SMC OMIM 615222) and Dyggve-Melchior-Clausen dysplasia (DMC OMIM 223800) are allelic skeletal dysplasias caused by homozygous or compound heterozygous mutations in DYM (OMIM 607461). Both disorders share the same skeletal phenotypes characterized by spondylo-epi-metaphyseal dysplasia with distinctive lacy ilia. The difference rests on the presence or absence of intellectual disability, that is, intellectual disability in DMC and normal cognition in SMC. However, genetic heterogeneity was suspected in SMC...
January 27, 2017: American Journal of Medical Genetics. Part A
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