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American Journal of Medical Genetics. Part A

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https://read.qxmd.com/read/30773818/expanding-the-genetic-and-clinical-spectrum-of-the-nono-associated-x-linked-intellectual-disability-syndrome
#1
Colleen M Carlston, Steven B Bleyl, Ashley Andrews, Lindsay Meyers, Sara Brown, Pinar Bayrak-Toydemir, James F Bale, Lorenzo D Botto
The NONO gene encodes a nuclear protein involved in RNA metabolism. Hemizygous loss-of-function NONO variants have been associated with syndromic intellectual disability and with left ventricular noncompaction (LVNC). A two-year-old boy presented to the University of Utah's Penelope Undiagnosed Disease Program with developmental delay, nonfamilial features, relative macrocephaly, and dilated cardiomyopathy with LVNC and Ebstein anomaly. Brain MRI showed a thick corpus callosum, mild Chiari I malformation, and a flattened pituitary...
February 17, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30773800/homozygous-variant-in-otx2-and-possible-genetic-modifiers-identified-in-a-patient-with-combined-pituitary-hormone-deficiency-ocular-involvement-myopathy-ataxia-and-mitochondrial-impairment
#2
Alessia Catania, Andrea Legati, Lorenzo Peverelli, Lorenzo Nanetti, Silvia Marchet, Nadia Zanetti, Costanza Lamperti, Daniele Ghezzi
Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, sensorineural deafness, myopathy, ataxia, combined pituitary hormone deficiency, associated with mitochondrial impairment. Targeted clinical exome sequencing led to the identification of a homozygous missense variant in OTX2. Since only dominant mutations within OTX2 have been associated with cases of syndromic microphthalmia, retinal dystrophy with or without pituitary dysfunctions, this represents the first report of an OTX2 recessive mutation...
February 17, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30773799/nid1-variant-associated-with-occipital-cephaloceles-in-a-family-expressing-a-spectrum-of-phenotypes
#3
Vanda McNiven, Yoko A Ito, Taila Hartley, Kristin Kernohan, Elka Miller, Christine M Armour
Autosomal dominant Dandy-Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy-Walker spectrum of disorders. Affected individuals often present with an occipital cephalocele with a bony skull defect, but typically have normal neurological development. Here, we report on a three-generation family in which individuals have variable phenotypes that are consistent with the ADDWOC spectrum: arachnoid cysts in the proband and his maternal grandfather, an occipital cephalocele in the proband and his brother, and a small bony defect in the proband's mother...
February 17, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30768759/cnot2-as-the-critical-gene-for-phenotypes-of-12q15-microdeletion-syndrome
#4
Tomoko Uehara, Toshiki Takenouchi, Yu Yamaguchi, Yumi Daimon, Hisato Suzuki, Yuri Sakaguchi, Kenjiro Kosaki
Chromosome 12q15 microdeletion syndrome is characterized by intellectual disability and dysmorphic facial features, but the associations between each of the deleted genes and the phenotypes of 12q15 microdeletion syndrome remain unclear. Recently, the smallest region of overlap in 16 previously reported patients was used to define three candidate genes for the 12q15 microdeletion syndrome: CNOT2, KCNMB4, and PTPRB. Among these three candidate genes, CNOT2 maintains the structural integrity of the carbon catabolite repressor 4 (CCR4)-negative on TATA (NOT) complex, which plays a key role in regulating global gene expression, and is essential for the enzymatic activity of the CCR4-NOT complex...
February 15, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30767363/mutations-in-ift80-cause-srps-type-iv-report-of-two-families-and-review
#5
Varoona Bizaoui, Tania Attié-Bitach, Céline Huber, Eva Kohaut, Joelle Roume, Maryse Bonnière, Valérie Cormier-Daire
We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.
February 14, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30762279/prevalence-of-pathogenic-and-likely-pathogenic-variants-in-the-rasopathy-genes-in-patients-who-have-had-panel-testing-for-cardiomyopathy
#6
Deema Aljeaid, Ana Isabel Sanchez, Emily Wakefield, Sarah E Chadwell, Nicole Moore, Carlos E Prada, Wenying Zhang
RASopathies are a group of developmental disorders caused by pathogenic variants in the RAS-MAPK pathway. Cardiomyopathy is a major feature of this group of disorders, specifically hypertrophic cardiomyopathy (HCM). HCM can be the first presenting feature in individuals with RASopathies. We conducted a retrospective study of all individuals who have had a cardiomyopathy gene panel ordered through our institution to determine the prevalence of pathogenic or likely pathogenic variants in RAS pathway genes in individuals with cardiomyopathy...
February 14, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30758909/erf-related-craniosynostosis-the-phenotypic-and-developmental-profile-of-a-new-craniosynostosis-syndrome
#7
Graeme E Glass, Justine O'Hara, Natalie Canham, Deirdre Cilliers, David Dunaway, Aimee L Fenwick, Noor-Owase Jeelani, David Johnson, Tracy Lester, Helen Lord, Jenny E V Morton, Hiroshi Nishikawa, Peter Noons, Kemmy Schwiebert, Caroleen Shipster, Alison Taylor-Beadling, Stephen R F Twigg, Pradeep Vasudevan, Steven A Wall, Andrew O M Wilkie, Louise C Wilson
Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari-1 malformation, speech and language delay, and learning difficulties and/or behavioral problems. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis. Here, we present findings from 16 unrelated probands with ERF-related craniosynostosis, with additional data from 20 family members sharing the mutations...
February 13, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30740902/exome-sequencing-reveals-a-novel-col2a1-mutation-implicated-in-multiple-epiphyseal-dysplasia
#8
Vinod Dasa, James R B Eastwood, Michal Podgorski, Heewon Park, Christopher Blackstock, Tetyana Antoshchenko, Piotr Rogala, Tadeusz Bieganski, S Michal Jazwinski, Malwina Czarny-Ratajczak
Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3, and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic changes involved in the etiology of the remaining cases are still unknown, suggesting that other genes contribute to MED development. Our goal was to identify a mutation causing an autosomal dominant form of MED in a large multigenerational family. Initially, we excluded all genes known to be associated with autosomal dominant MED by using microsatellite and SNP markers...
February 10, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30740879/congenital-clubfoot-in-europe-a-population-based-study
#9
Hao Wang, Ingeborg Barisic, Maria Loane, Marie-Claude Addor, Linda M Bailey, Miriam Gatt, Kari Klungsoyr, Olatz Mokoroa, Vera Nelen, Amanda J Neville, Mary O'Mahony, Anna Pierini, Anke Rissmann, Christine Verellen-Dumoulin, Hermien E K de Walle, Awi Wiesel, Katarzyna Wisniewska, Lolkje T W de Jong-van den Berg, Helen Dolk, Babak Khoshnood, Ester Garne
We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995-2011. Cases without chromosomal anomalies born during 2005-2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment...
February 10, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30737907/xq22-3q23-microdeletion-harboring-tmem164-and-ammecr1-genes-two-case-reports-confirming-a-recognizable-phenotype-with-short-stature-midface-hypoplasia-intellectual-delay-and-elliptocytosis
#10
Brice Poreau, Francis Ramond, Radu Harbuz, Véronique Satre, Claire Barro, Claire Vettier, Véronique Adouard, Julien Thevenon, Pierre-Simon Jouk, Charles Coutton, Renaud Touraine, Klaus Dieterich
The AMME syndrome defined as the combination of Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis (AMME) is known to be a contiguous gene syndrome associated with microdeletions in the region Xq22.3q23. Recently, using exome sequencing, missense pathogenic variants in AMMECR1 have been associated with intellectual disability, midface hypoplasia, and elliptocytosis. In these cases, AMMECR1 gene appears to be responsible for most of the clinical features of the AMME syndrome except for Alport syndrome...
February 8, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30737893/substantial-pain-burden-in-frequency-intensity-interference-and-chronicity-among-children-and-adults-with-neurofibromatosis-type-1
#11
Alanna M Kongkriangkai, Christopher King, Lisa J Martin, Emily Wakefield, Carlos E Prada, Geraldine Kelly-Mancuso, Elizabeth K Schorry
Tumor growths, migraine headaches, and other health-related complications reported in patients with neurofibromatosis type 1 (NF1) are often associated with pain. Thus, this study sought to describe and quantify the pain experience in children and young adults with NF1. Surveys were administered to 49 participants (28 children and 21 adults), ages 8 through 40 years. The survey included the Numeric Rating Scale 11 (NRS11) to assess pain intensity and the Patient Reported Outcomes Measurement Information System (PROMIS) to assess pain interference...
February 8, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30737887/confirmation-of-a-new-phenotype-in-an-individual-with-a-variant-in-the-last-part-of-exon-30-of-crebbp
#12
Andrea Angius, Paolo Uva, Manuela Oppo, Ivana Persico, Stefano Onano, Stefania Olla, Valentina Pes, Chiara Perria, Gianmauro Cuccuru, Rossano Atzeni, Gigliola Serra, Francesco Cucca, Stefano Sotgiu, Raoul C Hennekam, Laura Crisponi
We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17-year-old boy presenting mild intellectual disability and dysmorphisms but not resembling the phenotype of classical Rubinstein-Taybi syndrome. The patient showed a marked overweight from early infancy on and had cortical heterotopias. Recently, 22 individuals have been reported with missense mutations in the last part of exon 30 and the beginning of exon 31 of CREBBP, showing this new phenotype...
February 8, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30734472/de-novo-ddx3x-missense-variants-in-males-appear-viable-and-contribute-to-syndromic-intellectual-disability
#13
Pantelis Nicola, Patrick R Blackburn, Kristen J Rasmussen, Nicole L Bertsch, Eric W Klee, Linda Hasadsri, Pavel N Pichurin, Julia Rankin, F Lucy Raymond, Jill Clayton-Smith
DDX3X (Xp11.4) encodes a DEAD-box RNA helicase that escapes X chromosome inactivation. Pathogenic variants in DDX3X have been shown to cause X-linked intellectual disability (ID) (MRX102, MIM: 300958). The phenotypes associated with DDX3X variants are heterogeneous and include brain and behavioral abnormalities, microcephaly, hypotonia, and movement disorders and/or spasticity. The majority of DDX3X variants described are de novo mutations in females with ID. In contrast, most male DDX3X variants are inherited from an unaffected mother, with one documented exception being a recently identified de novo splice site variant...
February 7, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30730599/revealing-the-functions-of-novel-mutations-in-rab3gap1-in-martsolf-and-warburg-micro-syndromes
#14
Asuman Koparir, Omer Faruk Karatas, Seda Salman Yilmaz, Ilknur Suer, Bugra Ozer, Betul Yuceturk, Mustafa Ozen
PURPOSE: Martsolf (MS) and Warburg micro syndromes (WARBM) are rare autosomal recessive inherited allelic disorders, which share similar clinical features including microcephaly, intellectual disability, brain malformations, ocular abnormalities, and spasticity. Here, we revealed the functions of novel mutations in RAB3GAP1 in a Turkish female patient with MS and two siblings with WARBM. We also present a review of MS patients as well as all reported RAB3GAP1 pathogenic mutations in the literature...
February 7, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30724471/39th-annual-david-w-smith-workshop-on-malformations-and-morphogenesis-abstracts-of-the-2018-annual-meeting
#15
Kym M Boycott, A Micheil Innes
The 39th Annual David W. Smith workshop on Malformations and Morphogenesis was held from August 24th-29th 2018 at the Banff Centre for Arts and Creativity, Banff, Alberta, Canada. The Workshop, which honors the legacy of David W. Smith, brought together clinicians and researchers from around the world interested in congenital malformations and their underlying mechanisms of morphogenesis in this addition to this year's five themes: phenotypes and phenotyping of known, novel and emerging syndromes; treatment; epigenetics and chromatin disorders; placenta; and, gene-environment interaction...
February 6, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30719864/hyperinsulinemic-hypoglycemia-in-seven-patients-with-de-novo-nsd1-mutations
#16
Katheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, Deema Aljeaid, Emma Bedoukian, Lynne M Bird, Diva D De Leon, Jullianne Diaz, Robert J Hopkin, Sejal P Kadakia, Beth Keena, Karen O Klein, Ian Krantz, Eyby Leon, Katherine Lord, Carey McDougall, Livija Medne, Cara M Skraban, Charles A Stanley, Jennifer Tarpinian, Elaine Zackai, Matthew A Deardorff, Jennifer M Kalish
Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features and intellectual disability caused by haploinsufficiency of the NSD1 gene. Genotype-phenotype correlations have been observed, with major anomalies seen more frequently in patients with 5q35 deletions than those with point mutations in NSD1. Though endocrine features have rarely been described, transient hyperinsulinemic hypoglycemia (HI) of the neonatal period has been reported as an uncommon presentation of Sotos syndrome...
February 4, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30719842/isolated-vocal-cord-paralysis-in-two-siblings-with-compound-heterozygous-variants-in-musk-expanding-the-phenotypic-spectrum
#17
Chaya Murali, Dong Li, Katheryn Grand, Hakon Hakonarson, Elizabeth Bhoj
The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by perturbations in signal transduction at the neuromuscular junction. Defects in muscle, skeletal, receptor tyrosine kinase (MuSK) cause two distinct phenotypes: fetal akinesia with multiple congenital anomalies (Fetal akinesia deformation sequence [MIM:208150]) and early onset congenital myasthenia (myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency [MIM:616325]). Myasthenia due to MuSK deficiency has variable clinical features, ranging from a milder presentation of isolated late-onset proximal muscle weakness; to a severe presentation of prenatal-onset diffuse weakness, ophthalmoplegia, respiratory failure, and vocal cord paralysis (VCP)...
February 4, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30719840/beckwith-wiedemann-syndrome-in-diverse-populations
#18
Kelly A Duffy, Brian J Sajorda, Alice C Yu, Evan R Hathaway, Katheryn L Grand, Matthew A Deardorff, Jennifer M Kalish
Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features. Although genotype-phenotype correlations have been demonstrated in BWS and although BWS has been reported to occur equally among racial and ethnic backgrounds, no study to date has evaluated the frequency of findings in different backgrounds. In this study, we evaluated the incidence of clinical features and molecular diagnoses among patients with BWS in Caucasian, Mixed, and non-Caucasian groups...
February 4, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30706611/heritable-disorders-of-connective-tissue-description-of-a-data-repository-and-initial-cohort-characterization
#19
Rebecca Bascom, Jane R Schubart, Susan Mills, Thomas Smith, Linda M Zukley, Clair A Francomano, Nazli McDonnell
We describe a data repository on heritable disorders of connective tissue (HDCT) assembled by the National Institutes of Health's National Institute on Aging (NIA) Intramural Research Program between 2001 and 2013. Participants included affected persons with a wide range of heritable connective tissue phenotypes, and unaffected family members. Elements include comprehensive history and physical examination, standardized laboratory data, physiologic measures and imaging, standardized patient-reported outcome measures, and an extensive linked biorepository...
February 1, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30703284/factors-affecting-quality-of-life-in-children-and-adolescents-with-hypermobile-ehlers-danlos-syndrome-hypermobility-spectrum-disorders
#20
Weiyi Mu, Michael Muriello, Julia L Clemens, You Wang, Christy H Smith, Phuong T Tran, Peter C Rowe, Clair A Francomano, Antonie D Kline, Joann Bodurtha
Hypermobile Ehlers-Danlos syndrome (hEDS) is a hereditary disorder of connective tissue, often presenting with complex symptoms can include chronic pain, fatigue, and dysautonomia. Factors influencing functional disability in the pediatric hEDS population are incompletely studied. This study's aims were to assess factors that affect quality of life in children and adolescents with hEDS. Individuals with hEDS between the ages 12-20 years and matched parents were recruited through retrospective chart review at two genetics clinics...
January 31, 2019: American Journal of Medical Genetics. Part A
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