Journal of Medical Genetics: 59 (11)

November 2022 - Volume 59 - 11

Novel disease loci

Original research:
Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis
(3 February, 2022)
Nicolas Cornière, R Brent Thomson, Stéphanie Thauvin, Bruno O Villoutreix, Sophie Karp, Diane W Dynia, Sarah Burlein, Lennart Brinkmann, Alaa Badreddine, Aurélie Dechaume, Mehdi Derhourhi, Emmanuelle Durand, Emmanuel Vaillant, Philippe Froguel, Régine Chambrey, Peter S Aronson, Amélie Bonnefond, Dominique Eladari

Neurogenetics

Original research:
Complete loss of the X-linked gene CASK causes severe cerebellar degeneration
(11 February, 2022)
Paras A Patel, Julia V Hegert, Ingrid Cristian, Alicia Kerr, Leslie E W LaConte, Michael A Fox, Sarika Srivastava, Konark Mukherjee
Original research:
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
(1 March, 2022)
Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre
Short report:
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum
(7 April, 2022)
Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, Solange Kapetanovic Garcia, Didem Ardicli, Haluk Topaloglu, Aurelio Hernández-Laín, Diclehan Orhan, Mehmet Alikasifoglu, Jennifer Duff, Sabine Specht, Kristen Nowak, Gianina Ravenscroft, Katherine Chao, Zaheer Valivullah, Sandra Donkervoort, Dimah Saade, Carsten Bönnemann, Volker Straub, Grace Yoon

Diagnostics

Original research: Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases (6 April, 2022)
Sung Eun Hong, Jana Kneissl, Anna Cho, Man Jin Kim, Soojin Park, Jeongeun Lee, Sijae Woo, Sora Kim, Jun-Soon Kim, Soo Yeon Kim, Sungwon Jung, Jinkuk Kim, Je-Young Shin, Jong-Hee Chae, Murim Choi
Original research:
Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant
(12 April, 2022)
Christopher Mark Watson, Lucy Jackson, Laura A Crinnion, David T Bonthron, Eamonn Sheridan
Original research: Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases (9 May, 2022)
Danny E. Miller, Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, Koutaro Yokote, Hisaya Kato, Yoshiro Maezawa, Aki Takada-Watanabe, Minoru Takemoto, George M. Martin, Evan E. Eichler, Fuki M. Hisama, Junko Oshima

Cognitive and behavioural genetics

Original research: Identifying the psychosocial predictors of ultraviolet exposure to the face in patients with xeroderma pigmentosum: a study of the behavioural factors affecting clinical outcomes in this genetic disease (7 April, 2022)
Robert Sarkany, Sam Norton, Martha Canfield, Myfanwy Morgan, Lesley Foster, Kirby Sainsbury, Vera Araujo-Soares, Hans Christian Wulf, John Weinman, Jessica Walburn

Phenotypes

Original research: Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation (5 July, 2022)
Shino Shimada, Bobby G Ng, Amy L White, Kim K Nickander, Coleman Turgeon, Kristen L Liedtke, Christina T Lam, Esperanza Font-Montgomery, Charles M Lourenco, Miao He, Dawn S Peck, Luis A Umana, Crescenda L Uhles, Devon Haynes, Patricia G Wheeler, Michael J Bamshad, Deborah A Nickerson, Tom Cushing, Ryan Gates, Natalia Gomez-Ospina, Heather M Byers, UW Center for Mendelian Genomics, Fernanda B Scalco, Noelia N Martinez, Rani Sachdev, Lacey Smith, Annapurna Poduri, Stephen Malone, Rebekah V Harris, Ingrid E Scheffer, Sergio D Rosenzweig, David R Adams, William A Gahl, May Christine V Malicdan, Kimiyo M Raymond, Hudson H Freeze, Lynne A Wolfe

Immunogenetics

Original research:
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus
(9 May, 2022)
Tomohiro Nakano, Yoji Sasahara, Atsuo Kikuchi, Kunihiko Moriya, Hidetaka Niizuma, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure

Cancer genetics

Original research:
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group
(29 June, 2022)
Léa Guerrini-Rousseau, Julien Masliah-Planchon, Sebastian M Waszak, Pia Alhopuro, Patrick R Benusiglio, Franck Bourdeaut, Ines B Brecht, Giada Del Baldo, Sandeep Kumar Dhanda, Maria Luisa Garrè, Corrie E M Gidding, Steffen Hirsch, Pauline Hoarau, Mette Jorgensen, Christian Kratz, Lucie Lafay-Cousin, Angela Mastronuzzi, Lorenza Pastorino, Stefan M Pfister, Christopher Schroeder, Miriam Jane Smith, Pia Vahteristo, Roseline Vibert, Catheline Vilain, Nicolas Waespe, Ingrid M Winship, D Gareth Evans, Laurence Brugieres

Structural variation

Short report: Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing (15 June, 2022)
Yusuke Sano, Yoshito Koyanagi, Jing Hao Wong, Yusuke Murakami, Kohta Fujiwara, Mikiko Endo, Tomomi Aoi, Kazuki Hashimoto, Toru Nakazawa, Yuko Wada, Shinji Ueno, Dan Gao, Akira Murakami, Yoshihiro Hotta, Yasuhiro Ikeda, Koji M Nishiguchi, Yukihide Momozawa, Koh-Hei Sonoda, Masato Akiyama, Akihiro Fujimoto

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Table of contents

November 2022 - Volume 59 - 11

Novel disease loci

Neurogenetics

Diagnostics

Cognitive and behavioural genetics

Phenotypes

Immunogenetics

Cancer genetics

Structural variation

Issue Information

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Table of contents

November 2022 - Volume 59 - 11

Novel disease loci

Neurogenetics

Diagnostics

Cognitive and behavioural genetics

Phenotypes

Immunogenetics

Cancer genetics

Structural variation

Issue Information