Open access

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, Valerie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloes, Bettina Bessieres, Laurence Loeuillet, Tania Attie-Bitach, Jelena Martinovic, Sophie Blesson, Florence Petit, Claire Beneteau, Sandra Whalen, Florent Marguet, Jerome Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre-Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne-Lise Delezoide, Alice Goldenberg, Marie-Line Jacquemont, Laetitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Munnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, Pierre Landrieu, Pascaline Letard, Fanny Pelluard, Laurence Perrin, Marie-Hélène Saint-Frison, Haluk Topaloglu, Laetitia Trestard, Catherine Vincent-Delorme, Helge Amthor, Christine Barnerias, Alexandra Benachi, Eric Bieth, Elise Boucher, Valerie Cormier-Daire, Andrée Delahaye-Duriez, Isabelle Desguerre, Bruno Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin-Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quélin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Helene Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet-Bianco, Michèle Granier, Romulus Grigorescu, Julien Saada, Marie Gonzales, Anne Guiochon-Mantel, Jean-Louis Bessereau, Marcel Tawk, Ivo Gut, Cyril Gitiaux, Judith Melki

10.1136/jmedgenet-2020-107595

April 5, 2021

Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore

Pei Sze Ng, Rick ACM Boonen, Eldarina Wijaya, Chan Eng Chong, Milan Sharma, Sabine Knaup, Shivaani Mariapun, Weang Kee Ho, Joanna Lim, Sook-Yee Yoon, Nur Aishah Mohd Taib, Mee Hoong See, Jingmei Li, Swee Ho Lim, Ern Yu Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Veronique Kiat-Mien Tan, Rob Martinus van Dam, Kartini Rahmat, Cheng Har Yip, Sara Carvalho, Craig Luccarini, Caroline Baynes, Alison M Dunning, Antonis Antoniou, Haico van Attikum, Douglas F Easton, Mikael Hartman, Soo Hwang Teo

10.1136/jmedgenet-2020-107471

April 2, 2021

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

Aviel Ragamin, Carolina C Gomes, Karen Bindels-de Heus, Renata Sandoval, Angelia V Bassenden, Luciano Dib, Fernando Kok, Julieta Alves, Irene Mathijssen, Evita Medici-Van den Herik, Robert Eveleigh, Tenzin Gayden, Bas Pullens, Albert Berghuis, Marjon van Slegtenhorst, Martina Wilke, Nada Jabado, Grazia Maria Simonetta Mancini, Ricardo Santiago Gomez

10.1136/jmedgenet-2020-107427

March 8, 2021

Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study

Faiza Gaba, Shivam Goyal, Dalya Marks, Dhivya Chandrasekaran, Olivia Evans, Sadiyah Robbani, Charlotte Tyson, Rosa Legood, Ertan Saridogan, W Glenn McCluggage, Helen Hanson, Naveena Singh, D Gareth Evans, Usha Menon, Ranjit Manchanda, on behalf of the PROTECTOR team, Raji Ganesan, Gareth Bryson, Gareth Rowlands, Rupali Arora, Munaza Ahmed, Aarti Sharma, Gautam Mehra, Adam Rosenthal, Michelle Mackintosh, Sadaf Ghaem-Maghami, Omer Devaja, Sudha Sundar, Janos Balega, Tim Duncan, Claire Newton, Sonali Kaushik, Angela Brady, Supratik Chattopadhyay, Natalia Povolotskaya, Iain Cameron, Rema Iyer, Lucy Side, Katie Snape, Anil Tailor, Kavitha Thumuluru Madhuri, Katherine Edey, Sian Taylor, Manon van Seters, Suma Kodiathodi, Partha Sengupta, Scott Fegan, Karin Williamson, Andrew Phillips, Mark Willett, Tony Chalhoub, Sanjay Rao, Nicholas Matthews, Beena Abdul, Claire Park, Jane Borley, Ibraheem Hamoodi, Richard Hutson, Kerryn Lutchman-Singh, Richard Peevor, Mahalakshmi Gurumurthy, Kalpana Ragupathy, Emma Crosbie

10.1136/jmedgenet-2020-107501

February 10, 2021

Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services

Sarah Wedderburn, Stephanie Archer, Marc Tischkowitz, Helen Hanson, on behalf of UKCGG, Kai Ren Ong, Alan Donaldson, Carole Brewer, Julian Adlard, Julian Barwell, Lynn Greenhalgh, Fiona Lalloo, Rachel Harrison, Dorothy Halliday, Zoe Kemp, Zofia Miedzybrodzka, Mary Porteous, Rosemarie Davidson, Jackie Cook, Lucy Side, Munaza Ahmed, Anju Kulkarni, Katie Snape, Helen Hanson, Alex Murray, David Goudie, Richard Martin, Marc Tischkowitz, Tabib Dabir, Angela Brady

10.1136/jmedgenet-2020-107529

February 10, 2021

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Vassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, Edoardo Giacopuzzi, Martin A McClatchey, Julian R Sampson, Mohnish Suri, Alice Gardham, Jan-Maarten Cobben, Deborah Osio, Andrew E Fry, Genomics England Research Consortium, Jenny C Taylor, Genomics England Research Consortium, J C Ambrose, P Arumugam, E L Baple, M Bleda, F Boardman-Pretty, J M Boissiere, C R Boustred, H Brittain, M J Caulfield, G C Chan, C E H Craig, L C Daugherty, A de Burca, A Devereau, G Elgar, R E Foulger, T Fowler, P Furió-Tarí, J M Hackett, D Halai, A Hamblin, S Henderson, J E Holman, T J P Hubbard, K Ibáñez, R Jackson, L J Jones, D Kasperaviciute, M Kayikci, A Kousathanas, L Lahnstein, K Lawson, S E A Leigh, I U S Leong, F J Lopez, F Maleady-Crowe, J Mason, E M McDonagh, L Moutsianas, M Mueller, N Murugaesu, A C Need, C A Odhams, C Patch, M B Pereira, D Perez-Gil, D Polychronopoulos, J Pullinger, T Rahim, A Rendon, P Riesgo-Ferreiro, T Rogers, M Ryten, K Savage, K Sawant, R H Scott, A Siddiq, A Sieghart, D Smedley, K R Smith, S C Smith, A Sosinsky, W Spooner, H E Stevens, A Stuckey, R Sultana, E R A Thomas, S R Thompson, C Tregidgo, A Tucci, E Walsh, S A Watters, M J Welland, E Williams, K Witkowska, S M Wood, M Zarowiecki

10.1136/jmedgenet-2020-107528

February 5, 2021