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Hearing Disorders: HELP
Articles by Karen W. Gripp
Based on 3 articles published since 2010
(Why 3 articles?)

Between 2010 and 2020, Karen W. Gripp wrote the following 3 articles about Hearing Disorders.
+ Citations + Abstracts
1 Review Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. 2016

Huang, Lijia / Vanstone, Megan R / Hartley, Taila / Osmond, Matthew / Barrowman, Nick / Allanson, Judith / Baker, Laura / Dabir, Tabib A / Dipple, Katrina M / Dobyns, William B / Estrella, Jane / Faghfoury, Hanna / Favaro, Francine P / Goel, Himanshu / Gregersen, Pernille A / Gripp, Karen W / Grix, Art / Guion-Almeida, Maria-Leine / Harr, Margaret H / Hudson, Cindy / Hunter, Alasdair G W / Johnson, John / Joss, Shelagh K / Kimball, Amy / Kini, Usha / Kline, Antonie D / Lauzon, Julie / Lildballe, Dorte L / López-González, Vanesa / Martinezmoles, Johanna / Meldrum, Cliff / Mirzaa, Ghayda M / Morel, Chantal F / Morton, Jenny E V / Pyle, Louise C / Quintero-Rivera, Fabiola / Richer, Julie / Scheuerle, Angela E / Schönewolf-Greulich, Bitten / Shears, Deborah J / Silver, Josh / Smith, Amanda C / Temple, I Karen / Anonymous80847 / van de Kamp, Jiddeke M / van Dijk, Fleur S / Vandersteen, Anthony M / White, Sue M / Zackai, Elaine H / Zou, Ruobing / Anonymous90847 / Bulman, Dennis E / Boycott, Kym M / Lines, Matthew A. ·The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. · Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada. · Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. · Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware. · Clinical Genetics Department, Belfast City Hospital, Belfast, UK. · Department of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California. · Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington. · Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington. · Department of Medical Genetics, Westmead Hospital, Sydney, Australia. · The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. · Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. · Hunter Genetics, Newcastle, Waratah, Australia. · University of Newcastle, Newcastle - School of Medicine and Public Health, Faculty of Health, Callaghan, Australia. · Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. · Department of Genetics, Permanente Medical Group, Roseville, California. · Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. · The Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania. · Shodair Children's Hospital, Helena, Montana. · Medical Geneticist, Ottawa, Ontario, Canada. · Clinical Genetics and Metabolism, Floating Hospital for Children, Tufts Medical Center, Boston, Massachusetts. · West of Scotland Clinical Genetics Service, South Glasgow University Hospital, Glasgow, UK. · Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland. · Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK. · Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada. · Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, Spain. · Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. · Department of Genetics, Sacramento Medical Center, Sacramento, California. · NSW Health Pathology, Newcastle, Australia. · West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK. · Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania. · Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, California. · Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas. · Genetic Counselling Clinic Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark. · Oxford Regional Genetics Service, The Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK. · Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. · Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK. · Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands. · Maritime Medical Genetics Service, IWKHealth Centre, Halifax, Nova Scotia, Canada. · Victoria Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia. · Department of Paediatrics, University of Melbourne, Melbourne, Australia. · Newborn Screening Ontario, The Children's Hospital of Eastern Ontario, Ottawa, Canada. · Metabolics and Newborn Screening, Department of Pediatrics, The Children's Hospital of Eastern Ontario, Ottawa, Canada. ·Hum Mutat · Pubmed #26507355.

ABSTRACT: Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal GTPase, U5-116 kDa/EFTUD2, is responsible. Here, we review the molecular basis of MFDM in the 69 individuals described to date, and report mutations in 38 new individuals, bringing the total number of reported individuals to 107 individuals from 94 kindreds. Pathogenic EFTUD2 variants comprise 76 distinct mutations and seven microdeletions. Among point mutations, missense substitutions are infrequent (14 out of 76; 18%) relative to stop-gain (29 out of 76; 38%), and splicing (33 out of 76; 43%) mutations. Where known, mutation origin was de novo in 48 out of 64 individuals (75%), dominantly inherited in 12 out of 64 (19%), and due to proven germline mosaicism in four out of 64 (6%). Highly penetrant clinical features include, microcephaly, first and second arch craniofacial malformations, and hearing loss; esophageal atresia is present in an estimated ∼27%. Microcephaly is virtually universal in childhood, with some adults exhibiting late "catch-up" growth and normocephaly at maturity. Occasionally reported anomalies, include vestibular and ossicular malformations, reduced mouth opening, atrophy of cerebral white matter, structural brain malformations, and epibulbar dermoid. All reported EFTUD2 mutations can be found in the EFTUD2 mutation database (http://databases.lovd.nl/shared/genes/EFTUD2).

2 Article Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool. 2018

Amudhavalli, Shivarajan M / Hanson, Randi / Angle, Brad / Bontempo, Kelly / Gripp, Karen W. ·Division of Genetics Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. · Advocate Children's Hospital, Park Ridge, Illinois. · A. I. du Pont Hospital for Children/Nemours, Wilmington, Delaware. ·Am J Med Genet A · Pubmed #30160832.

ABSTRACT: Aymé-Gripp syndrome (AGS) is an autosomal dominant multisystem disorder caused by specific heterozygous variants in MAF. The resulting aberrant protein shows impaired GSK-mediated MAF phosphorylation. AGS is characterized by congenital cataracts, sensorineural hearing loss, short stature, intellectual disability, and distinctive facial features with brachycephaly. Cardiac and joint phenotypes are present in nearly half of patients. We review information on 10 published individuals with MAF mutations and clinical AGS and describe five additional patients, including three with novel mutations. Joint problems, typically including radioulnar synostosis and joint limitations, were present in 9/15 patients. Hip replacement in young adulthood was needed in four patients. Pericarditis occurred in 6/15 individuals. An automated facial analysis of 2D photos was used to compare the facial phenotype of 13 individuals from the literature or reported here, with facial photos of a control cohort of unaffected individuals and a cohort of Down syndrome patients. A multiclass approach yielded an accuracy of 86.86% and 89.05%, respectively, in two independent experiments compared to a random chance of 37.74%. In binary comparisons of AGS and Down syndrome, the area under the curve (AUC) was 0.994 (P < .001) and 1.0 (P < .001), respectively. Binary comparisons of AGS and unaffected controls yielded AUC of 0.994 (P < .001) and 0.989 (P = .003), respectively, suggesting that the facial phenotype of AGS could clearly be distinguished from unaffected individuals and from Down syndrome patients. Automated facial analysis may be helpful in the identification and evaluation of individuals suspected to have AGS.

3 Article Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. 2015

Niceta, Marcello / Stellacci, Emilia / Gripp, Karen W / Zampino, Giuseppe / Kousi, Maria / Anselmi, Massimiliano / Traversa, Alice / Ciolfi, Andrea / Stabley, Deborah / Bruselles, Alessandro / Caputo, Viviana / Cecchetti, Serena / Prudente, Sabrina / Fiorenza, Maria T / Boitani, Carla / Philip, Nicole / Niyazov, Dmitriy / Leoni, Chiara / Nakane, Takaya / Keppler-Noreuil, Kim / Braddock, Stephen R / Gillessen-Kaesbach, Gabriele / Palleschi, Antonio / Campeau, Philippe M / Lee, Brendan H L / Pouponnot, Celio / Stella, Lorenzo / Bocchinfuso, Gianfranco / Katsanis, Nicholas / Sol-Church, Katia / Tartaglia, Marco. ·Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Polo di Ricerca - Malattie rare, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, 00146 Italy. · Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy. · Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, DE 19803, USA. · Istituto di Pediatria, Università Cattolica del Sacro Cuore, Rome, 00168 Italy. · Center for Human Disease Modeling, Department of Cell Biology, Duke University, Durham, NC 27710, USA. · Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma "Tor Vergata," Rome, 00133 Italy. · Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Dipartimento di Medicina Sperimentale, Università "La Sapienza," 00161 Rome, Italy. · Center for Pediatric Research, A.I. duPont Hospital for Children, Wilmington, DE 19803, USA. · Dipartimento di Medicina Sperimentale, Università "La Sapienza," 00161 Rome, Italy. · Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, 00161 Italy. · Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, Rome, 00198 Italy. · Dipartimento di Psicologia, Sezione di Neuroscienze, Università "La Sapienza," Rome, 00161 Italy. · Sezione di Istologia e Embriologia Medica, Dipartimento di Scienze Anatomiche, Istologiche, Medico-legali e dell'Apparato Locomotore, Università "La Sapienza," Rome, 00161 Italy. · Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, 13385 France. · Division of Medical Genetics, Ochsner Health System, New Orleans, LA 70121, USA. · Department of Pediatrics, Center for Genetic Medicine, University of Yamanashi, Chuo, Yamanashi, 409-3898 Japan. · Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA. · Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA. · Institut für Humangenetik, Universität zu Lübeck, Lübeck, 23538 Germany. · Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, H3T 1C5 Canada. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. · Institut Curie Centre de Recherche, CNRS UMR 3347, INSERM U1021, Paris Sud University, Orsay, 91405 France. · Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Polo di Ricerca - Malattie rare, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, 00146 Italy. Electronic address: marco.tartaglia@iss.it. ·Am J Hum Genet · Pubmed #25865493.

ABSTRACT: Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, and growth. We report that a narrow spectrum of amino-acid substitutions within the transactivation domain of the v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), a leucine zipper-containing transcription factor of the AP1 superfamily, profoundly affect development. Seven different de novo missense mutations involving conserved residues of the four GSK3 phosphorylation motifs were identified in eight unrelated individuals. The distinctive clinical phenotype, for which we propose the eponym Aymé-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. Disease-causing mutations were demonstrated to impair proper MAF phosphorylation, ubiquitination and proteasomal degradation, perturbed gene expression in primary skin fibroblasts, and induced neurodevelopmental defects in an in vivo model. Our findings nosologically and clinically delineate a previously poorly understood recognizable multisystem disorder, provide evidence for MAF governing a wider range of developmental programs than previously appreciated, and describe a novel instance of protein dosage effect severely perturbing development.