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https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#1
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29331079/lmod3-associated-nemaline-myopathy-prenatal-ultrasonographic-pathologic-and-molecular-findings
#2
Michal Berkenstadt, Ben Pode-Shakked, Ortal Barel, Hila Barash, Reuven Achiron, Yinon Gilboa, Dvora Kidron, Annick Raas-Rothschild
To describe the prenatal presentation, including ultrasonographic, histologic, and molecular findings, in 2 fetuses affected with LMOD3-related nemaline myopathy. Prenatal ultrasonographic examinations and histopathologic studies were performed on 2 fetuses with evidence of nemaline myopathy. To establish a molecular diagnosis, whole-exome sequencing was pursued for the affected fetuses. Nemaline myopathy is a common form of congenital myopathy manifesting with nonprogressive generalized muscle weakness, hypotonia, and electron-dense protein inclusions in skeletal myofibers...
January 13, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29330547/recessive-loss-of-function-pign-alleles-including-an-intragenic-deletion-with-founder-effect-in-la-r%C3%A3-union-island-in-patients-with-fryns-syndrome
#3
Jean-Luc Alessandri, Christopher T Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, Guillaume Benoist, Myriam Oufadem, Asma Chebil, Yannis Duffourd, Coralie Dumont, Marion Gérard, Paul Kuentz, Thibaud Jouan, Francesca Filippini, Thi Tuyet Mai Nguyen, Olivier Alibeu, Christine Bole-Feysot, Patrick Nitschké, Asma Omarjee, Duksha Ramful, Hanitra Randrianaivo, Bérénice Doray, Laurence Faivre, Jeanne Amiel, Philippe M Campeau, Julien Thevenon
Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations. FS is typically lethal in the fetal or neonatal period. Inheritance is presumed autosomal recessive. Although no major genetic cause has been identified for FS, biallelic truncating variants in PIGN, encoding a component of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, have been identified in a limited number of cases with a phenotype compatible with FS...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29327291/pars-plana-vitrectomy-with-transscleral-fixation-of-posterior-chamber-lens-in-the-treatment-of-post-traumatic-lens-dislocation
#4
Paweł Bieliński, Monika Jasielska, Anna Wyszyńska, Mateusz Winiarczyk, Jerzy Mackiewicz
PURPOSE: To present our experience with post-traumatic lens dislocation management by vitrectomy followed with sutureless artificial lens fixation. METHODS: The retrospective study involved 15 patients (12 men and 3 women) aged from 36 to 78 (on average, 63 years old), from the Vitreoretinal Surgery Teaching Hospital, operated in the years 2013-2015. All cases concerned ocular traumas with dislocation of the natural or artificial lens to the anterior chamber, vitreous body chamber, or post-traumatic aphakia...
January 11, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29322350/monogenic-disorders-that-mimic-the-phenotype-of-rett-syndrome
#5
Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu
Rett syndrome (RTT) is caused by mutations in methyl-CpG-binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. In this study, we attempted to identify other monogenic disorders that share features with RTT. We performed a retrospective chart review on n = 319 patients who had undergone clinical whole exome sequencing (WES) for further etiological evaluation of neurodevelopmental diagnoses that remained unexplained despite extensive prior workup...
January 10, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29314548/clinical-biochemical-and-genetic-features-associated-with-vars2-related-mitochondrial-disease
#6
Francesco Bruni, Ivano Di Meo, Emanuele Bellacchio, Bryn D Webb, Robert McFarland, Zofia M A Chrzanowska-Lightowlers, Langping He, Ewa Skorupa, Isabella Moroni, Anna Ardissone, Anna Walczak, Henna Tyynismaa, Pirjo Isohanni, Hanna Mandel, Holger Prokisch, Tobias Haack, Penelope E Bonnen, Bertini Enrico, Ewa Pronicka, Daniele Ghezzi, Robert W Taylor, Daria Diodato
In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi-allelic functional variants in VARS2, encoding the mitochondrial valyl tRNA-synthetase, were first reported in a patient with psychomotor delay and epilepsia partialis continua associated with an oxidative phosphorylation (OXPHOS) complex I defect, before being described in a patient with a neonatal form of encephalocardiomyopathy...
January 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29311684/a-severely-short-statured-girl-with-47-xx-%C3%A2-%C3%A2-14-46-xx-upd-14-mat-mosaicism
#7
Kikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, Akie Nakamura, Maki Fukami, Masayo Kagami
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated...
January 9, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29310717/characterization-of-glycosylphosphatidylinositol-biosynthesis-defects-by-clinical-features-flow-cytometry-and-automated-image-analysis
#8
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N Robinson, Helenius J Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M Krawitz
BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS)...
January 9, 2018: Genome Medicine
https://www.readbyqxmd.com/read/29305346/a-de-novo-nonsense-mutation-in-asxl3-shared-by-siblings-with-bainbridge-ropers-syndrome
#9
Daniel C Koboldt, Theresa Mihalic Mosher, Benjamin J Kelly, Emily Sites, Dennis Bartholomew, Scott E Hickey, Kim McBride, Richard K Wilson, Peter White
Two sisters (ages 16 y. and 15 y.) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy, and have no other children. Oligo array, fragile X testing, and numerous single-gene tests were negative. All four family members underwent research exome sequencing, which revealed a heterozygous nonsense mutation in ASXL3 (p.R1036X) that segregated with disease. Exome data and independent Sanger sequencing confirmed that the variant is de novo, suggesting possible germline mosaicism in one parent...
January 5, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29304759/a-novel-compound-heterozygous-variant-identified-in-gldc-gene-in-a-chinese-family-with-non-ketotic-hyperglycinemia
#10
Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu
BACKGROUND: Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients. This study aimed to identify the genetic mutations in a Chinese family with NKH. METHODS: A Chinese family of Han ethnicity, with three siblings with NKH was studied. Sanger sequencing and multiplex ligation-dependent probe amplification combined with SYBR green real-time quantitative PCR was used to identify potential mutations in the GLDC, AMT and GCSH genes...
January 5, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29301000/developmental-defects-associated-with-dna-copy-number-gain-of-chromosome-2q33-1-a-case-report-and-review-of-literature
#11
Akshaya Gupta, Jacob Yo, Gengming Huang, Lynn Soong, Jianli Dong
Caspases play a vital role during apoptosis. In addition to apoptosis, caspases play a role in cytokine gene induction and work to inhibit apoptosis. In order for individuals to thrive with useful tissue growth, the rate of cell growth and division must surpass the rate of cell division. It is well established that excessive cell death of embryonic cells is a vital process occurring before structural abnormalities, regardless of their nature. Here we describe a 13-month-old male patient with a 4.7Mb interstitial duplication of chromosome 2q33...
December 29, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29300972/a-recurrent-de-novo-missense-mutation-in-ubtf-causes-developmental-neuroregression
#12
Camilo Toro, Roderick T Hori, May Christine V Malicdan, Cynthia J Tifft, Amy Goldstein, William A Gahl, David R Adams, Fauni Harper, Lynne A Wolfe, Jianfeng Xiao, Mohammad M Khan, Jun Tian, Kevin A Hope, Lawrence T Reiter, Michel G Tremblay, Thomas Moss, Alexis L Franks, Chris Balak, Mark S LeDoux
UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns of neuroregression due to recurrent de novo mutations in UBTF (GRCh37/hg19, NC_000017.10:g.42290219C>T, NM_014233.3:c.628G>A) resulting in the same amino acid change in both UBTF1 and UBTF2 (p.Glu210Lys [p.E210K]). Disease onset in our cohort was at 2.5 to 3 yrs and characterized by slow progression of global motor, cognitive and behavioral dysfunction...
January 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29297472/the-effect-of-hybrid-treatment-on-the-rehabilitation-and-clinical-condition-of-patients-with-multi-vessel-coronary-artery-disease
#13
Joanna Foik, Anna Brzęk, Marek J Gierlotka, Michał O Zembala, Mariusz Gąsior, Marian Zembala
INTRODUCTION    Rehabilitation after coronary revascularization procedures is an intrinsic element of treatment during the in-hospital period. OBJECTIVES    The aim of this study was to compare the course and effects of rehabilitation in patients receiving hybrid or classical treatment during the in-hospital period. PATIENTS AND METHODS    Two hundred patients participating in a prospective, random-ized clinical trial (POLMIDES), that assessed the effect of hybrid treatment on in-hospital outcomes and remote results in patients with multi-vessel coronary artery disease were ana-lysed...
January 2, 2018: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/29290337/kiaa1109-variants-are-associated-with-a-severe-disorder-of-brain-development-and-arthrogryposis
#14
Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M van Hasselt, Michaël Wiederkehr, Caroline F Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S Alkuraya, Alexandre Reymond
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract...
December 27, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29283439/homozygous-boricua-tbck-mutation-causes-neurodegeneration-and-aberrant-autophagy
#15
Xilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, Xueli Li, A Reghan Foley, Diana X Bharucha-Goebel, Sudha K Kessler, Sabrina W Yum, Peter B Crino, Miao He, Douglas C Wallace, Carsten G Bönnemann
OBJECTIVE: Autosomal recessive mutations in TBCK cause intellectual disability of variable severity. Although the physiologic function of TBCK remains unclear, loss-of-function mutations are associated with inhibition of mTORC1 signaling. As mTORC1 signaling is known to regulate autophagy, we hypothesized that TBCK-encephalopathy patients with a neurodegenerative course have defects in autophagic-lysosomal dysfunction. METHODS: Children (n=8) of Puerto Rican (Boricua) descent affected with homozygous TBCK p...
December 28, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29279279/characterization-of-a-novel-variant-in-siblings-with-asparagine-synthetase-deficiency
#16
Stephanie J Sacharow, Elizabeth E Dudenhausen, Carrie L Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E Olson, Casie A Genetti, Pankaj B Agrawal, Robert McKenna, Michael S Kilberg
Asparagine Synthetase Deficiency (ASD) is a recently described inborn error of metabolism caused by bi-allelic pathogenic variants in the asparagine synthetase (ASNS) gene. ASD typically presents congenitally with microcephaly and severe, often medically refractory, epilepsy. Development is generally severely affected at birth. Tone is abnormal with axial hypotonia and progressive appendicular spasticity. Hyperekplexia has been reported. Neuroimaging typically demonstrates gyral simplification, abnormal myelination, and progressive cerebral atrophy...
December 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29262476/-short-stature-optic-nerve-atrophy-and-pelger-hu%C3%A3-t-anomaly-syndrome-with-antibody-immunodeficiency-and-aplastic-anemia-a-case-report-and-literature-review
#17
T Y He, N Zhang, Y Xia, Y Luo, C R Li, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS'. Result: A 2-year-four-month old girl, was admitted due to 'fever and pallor for one day'. There was an intrauterine growth retardation at her fetal stage. Since her birth, she had suffered from recurrent infections and development delay was accompanied by persistent liver dysfunction...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29261580/ehlers-danlos-syndrome-type-ivb-and-tracheobronchomegaly
#18
Saniye Girit, Ebru Senol, Yakup Cag, Ozge Karatas, Tamer Baysal
Tracheobronchomegaly (TBM) is a rare disease of unknown etiology, characterized by dilatation of the trachea and main bronchi. Despite its rarity, TBM has been reported to accompany several conditions, particularly Ehlers-Danlos syndrome. Herein, we report on a 15-year-old patient who was diagnosed with TBM on the basis of radiologic and endoscopic findings and with Ehlers-Danlos syndrome type IVB presenting with marfanoid features, severe kyphoscoliosis, increased skin elasticity, and ongoing hypotonia since the neonatal period...
January 2018: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/29258560/a-clinical-series-using-intensive-neurorehabilitation-to-promote-functional-motor-and-cognitive-skills-in-three-girls-with-cask-mutation
#19
Stephanie C DeLuca, Dory A Wallace, Mary Rebekah Trucks, Konark Mukherjee
OBJECTIVES: Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments...
December 19, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29251763/de-novo-variants-in-klf7-are-a-potential-novel-cause-of-developmental-delay-intellectual-disability-neuromuscular-and-psychiatric-symptoms
#20
Z Powis, I Petrik, J S Cohen, D Escolar, J Burton, C M A van Ravenswaaij-Arts, D A Sival, A P A Stegmann, T Kleefstra, R Pfundt, R Chikarmane, A Begtrup, R Huether, S Tang, D N Shinde
Due to small numbers of reported patients with pathogenic variants in single genes, the phenotypic spectrum associated with genes causing neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorder is expanding. Among these genes is KLF7 (Krüppel-like factor 7), which is located at 2q33.3 and has been implicated in several developmental processes. KLF7 has been proposed to be a candidate gene for the phenotype of autism features seen in patients with a 2q33.3q34deletion. Herein, we report four unrelated individuals with de novo KLF7 missense variants who share similar clinical features of developmental delay/ID, hypotonia, feeding/swallowing issues, psychiatric features and neuromuscular symptoms, and add to the knowledge about the phenotypic spectrum associated with KLF7 haploinsufficiency...
December 18, 2017: Clinical Genetics
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