Journal of Medical Genetics: 53 (6)

Molecular medicine

Original article: Multigene testing of moderate-risk genes: be mindful of the missense (19 January, 2016)
E L Young, B J Feng, A W Stark, F Damiola, G Durand, N Forey, T C Francy, A Gammon, W K Kohlmann, K A Kaphingst, S McKay-Chopin, T Nguyen-Dumont, J Oliver, A M Paquette, M Pertesi, N Robinot, J S Rosenthal, M Vallee, C Voegele, J L Hopper, M C Southey, I L Andrulis, E M John, M Hashibe, J Gertz, Breast Cancer Family Registry, F Le Calvez-Kelm, F Lesueur, D E Goldgar, S V Tavtigian
Original article:
HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer
(1 February, 2016)
Olivier Buhard, Anaïs Lagrange, Agathe Guilloux, Chrystelle Colas, Mouna Chouchène, Kristell Wanherdrick, Florence Coulet, Erell Guillerm, Coralie Dorard, Laetitia Marisa, Adem Bokhari, Malorie Greene, Nizar El-Murr, Sahra Bodo, Martine Muleris, Isabelle Sourouille, Magali Svrcek, Pascale Cervera, Hélène Blanché, Jérémie H Lefevre, Yann Parc, Come Lepage, Caroline Chapusot, Anne-Marie Bouvier, Marie-Pierre Gaub, Janick Selves, Kerryn Garrett, Barry Iacopetta, Richie Soong, Richard Hamelin, Carmen Garrido, Olivier Lascols, Thierry André, Jean-François Fléjou, Ada Collura, Alex Duval
Short report:
Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour
(13 November, 2015)
Timothy Blake Palculict, E Cristy Ruteshouser, Yu Fan, Wenyi Wang, Louise Strong, Vicki Huff

Original article: Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy (20 January, 2016)
Simon Edvardson, Jae Kyo Yi, Chaim Jalas, Ruijuan Xu, Bryn D Webb, Justin Snider, Anastasia Fedick, Elisheva Kleinman, Nathan R Treff, Cungui Mao, Orly Elpeleg
Short report:
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
(6 November, 2015)
Yonatan Perez, Rotem Kadir, Michael Volodarsky, Iris Noyman, Hagit Flusser, Zamir Shorer, Libe Gradstein, Ramon Y Birnbaum, Ohad S Birk

Original article: Clinical course of sly syndrome (mucopolysaccharidosis type VII) (23 February, 2016)
Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, Brett H Graham, Marina Szlago, Robert Greenstein, Mercedes Pineda, Antonio Gonzalez-Meneses, Mahmut Çoker, Dennis Bartholomew, Mark S Sands, Raymond Wang, Roberto Giugliani, Alfons Macaya, Gregory Pastores, Anastasia K Ketko, Fatih Ezgü, Akemi Tanaka, Laila Arash, Michael Beck, Rena E Falk, Kaustuv Bhattacharya, José Franco, Klane K White, Grant A Mitchell, Loreta Cimbalistiene, Max Holtz, William S Sly

Original article:
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt
(3 February, 2016)
Nataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, Barbara Klink, Karl Hackmann, Irmingard Neuhann, Barbora Novotna, Jens Schallner, Claudia Krause, Ian A Glass, Shawn E Parnell, Anna Benet-Pages, Anke M Nissen, Wolfgang Berger, Janine Altmüller, Holger Thiele, Bernhard H F Weber, Evelin Schrock, William B Dobyns, Andrea Bier, Andreas Rump
Communications:
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations
(15 December, 2015)
Kimberly A Aldinger, Nancy J Mendelsohn, Brian HY Chung, Wenjuan Zhang, Daniel H Cohn, Bridget Fernandez, Fowzan S Alkuraya, William B Dobyns, Cynthia J Curry