Specific MRI abnormalities reveal severe Perrault syndrome due to CLPP defects

Autor: Tom EJ Theunissen, Radek Szklarczyk, Mike Gerards, Debby MEI Hellebrekers, Elvira NM Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola GM van Berkel, Marjo S van der Knaap, Irenaeus FM de Coo, Hubert JM Smeets

Publikováno v: Frontiers in Neurology, Vol 7 (2016)

In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severi

Externí odkaz: https://doaj.org/article/769aa808d8e0462fa537e50627b5aa26

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Autor: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura

Publikováno v: Human Mutation. 41:299-315

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::94e416d43f4f6e31d2ae02dd86a7d5e7
https://doi.org/10.1002/humu.23929

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Autor: Luc Régal, Katie Clarkson, Katherine Lachlan, Kati J. Buckingham, Charles J. Waechter, F. Sessions Cole, Kimiyo Raymond, Rita Barone, Daisy Rymen, Derek Wong, Arve Vøllo, Gert Matthijs, Jay Shendure, Alina T. Midro, Erik A. Eklund, Hudson H. Freeze, Rudy Van Coster, Gregory M. Cooper, Jeffrey S. Rush, Sergey A. Shiryaev, Luísa Diogo, Philip James, Andrew J. Kornberg, Laurie A. Demmer, Jose E. Abdenur, Valerie Race, Maria Kibaek, Shawn O'Connor, Lynne A. Wolfe, Amarilis Sanchez-Valle, Agata Fiumara, Miao He, Raymond Y. Wang, Alex J. Fay, Martin Kircher, Rebecca D. Ganetzky, William A. Gahl, Erika Souche, Füsun Alehan, Amy Yang, Michael J. Bamshad, Himanshu Goel, S. Lane Rutledge, Jane E. Brumbaugh, Susan Sparks, Daniel Katz, Can Ficicioglu, Bobby G. Ng, Jaak Jaeken, Heidi Peters, Christina Lam, Gerard T. Berry, Liesbeth Keldermans, Eric Vilain, Tim Wood, Lyndsay A. Harshman, Deborah A. Nickerson, Pamela Trapane, Joy Yaplito-Lee

Publikováno v: Human Mutation. 37:653-660

Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over one hundred genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::37d794721c393eee4b671097cc801db2
https://doi.org/10.1002/humu.22983

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Autor: Fady M. Mikhail, S. Lane Rutledge, Maria Descartes, Nathaniel H. Robin, Brooke Rush, Andrew J. Carroll, Jennifer Ibrahim, Rachel D. Burnside, Robin Godshalk

Publikováno v: Genetics in Medicine. 16:92-100

The five segmental duplications (LCR22-D to -H) at the distal region of chromosome 22 band q11.2 in the region immediately distal to the DiGeorge/velocardiofacial syndrome deleted region have been implicated in the recurrent distal 22q11.2 microdelet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b5c9f359cb86717925d117fae05e1c9
https://doi.org/10.1038/gim.2013.79

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Autor: Reginald E. Bittner, Wolfgang M. Schmidt, Stephan Züchner, Benjamin Mayerhofer, Rebecca Schüle, S. Lane Rutledge, Eugen Boltshauser

Publikováno v: The American journal of human genetics 97(6), 855-861 (2015). doi:10.1016/j.ajhg.2015.10.011

Hereditary ataxias comprise a group of genetically heterogeneous disorders characterized by clinically variable cerebellar dysfunction and accompanied by involvement of other organ systems. The molecular underpinnings for many of these diseases are w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5690933738f2f061cbe25f2299637867
https://pubmed.ncbi.nlm.nih.gov/26581903