Journal of Medical Genetics: 54 (12)

Evolutionary genetics

Original article: Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations (5 August, 2017)
Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem

Short report:
Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation
(21 April, 2017)
Iris H I M Hollink, Ans M W van den Ouweland, H Berna Beverloo, Susan T C J M Arentsen-Peters, C Michel Zwaan, Anja Wagner

Short report:
Confirmation of mutations in PROSC as a novel cause of vitamin B_₆-dependent epilepsy
(8 April, 2017)
Barbara Plecko, Markus Zweier, Anaïs Begemann, Deborah Mathis, Bernhard Schmitt, Pasquale Striano, Martina Baethmann, Maria Stella Vari, Francesca Beccaria, Federico Zara, Lisa M Crowther, Pascal Joset, Heinrich Sticht, Sorina Mihaela Papuc, Anita Rauch
Original article:
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy
(27 October, 2017)
Andrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, Oliver Stehling, Silvia Marchet, Costanza Lamperti, Alberto Ferrari, Alan J Robinson, Ulrich Mühlenhoff, Roland Lill, Massimo Zeviani, Paola Goffrini, Daniele Ghezzi

Short report:
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects
(7 June, 2017)
Paul Kruszka, Pranoot Tanpaiboon, Katherine Neas, Kathleen Crosby, Seth I Berger, Ariel F Martinez, Yonit A Addissie, Yupada Pongprot, Rekwan Sittiwangkul, Suchaya Silvilairat, Krit Makonkawkeyoon, Lan Yu, Julia Wynn, James T Bennett, Heather C Mefford, William T Reynolds, Xiaoqin Liu, Mathilda T M Mommersteeg, Wendy K Chung, Cecilia W Lo, Maximilian Muenke
Short report:
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
(26 October, 2017)
Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, Giulia Parmeggiani, Matt Wherlock, Geoff Woodward, Mark Greenslade, Maggie Williams, Judith St-Onge, Alessandra Ferlini, Giampaolo Garani, Elisa Ballardini, Bregje W van Bon, Rocio Acuna-Hidalgo, Axel Bohring, Jean-François Deleuze, Anne Boland, Vincent Meyer, Robert Olaso, Emmanuelle Ginglinger, DDD Study, Jean-Baptiste Rivière, Han G Brunner, Alexander Hoischen, Ruth Newbury-Ecob, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon

Original article:
CTCF deletion syndrome: clinical features and epigenetic delineation
(28 August, 2017) Free
Ikumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, Hidetaka Watanabe, Ken Higashimoto, Junko Tomikawa, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshitsugu Sugio, Keiko Wakui, Kenichiro Hata, Hidenobu Soejima, Kenji Kurosawa, Shinji Saitoh

Original article: Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature (27 September, 2017)
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Nathalie Bednarek, Maud Bidet, Catherine Bloch, Nathalie Boddaert, Delphine Borgel, Anaïs Brassier, Alexis Brice, Arnaud Bruneel, Roger Buissonnière, Brigitte Chabrol, Marie-Chantal Chevalier, Valérie Cormier-Daire, Claire De Barace, Emmanuel De Maistre, Anne De Saint-Martin, Nathalie Dorison, Valérie Drouin-Garraud, Thierry Dupré, Bernard Echenne, Patrick Edery, François Feillet, Isabelle Fontan, Christine Francannet, François Labarthe, Cyril Gitiaux, Delphine Héron, Marie Hully, Sylvie Lamoureux, Dominique Martin-Coignard, Cyril Mignot, Gilles Morin, Tiffany Pascreau, Olivier Pincemaille, Michel Polak, Agathe Roubertie, Christel Thauvin-Robinet, Annick Toutain, Géraldine Viot, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale De Lonlay

Original article:
Genetic landscape of interactive effects of HLA-DRB1 alleles on susceptibility to ACPA(+) rheumatoid arthritis and ACPA levels in Japanese population
(12 October, 2017)
Chikashi Terao, Yukinori Okada, Katsunori Ikari, Yuta Kochi, Akari Suzuki, Koichiro Ohmura, Keitaro Matsuo, Atsuo Taniguchi, Michiaki Kubo, Soumya Raychaudhuri, Kazuhiko Yamamoto, Hisashi Yamanaka, Yoichiro Kamatani, Tsuneyo Mimori, Fumihiko Matsuda