Journal of Medical Genetics: 60 (5)

May 2023 - Volume 60 - 5

Position Statement

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2
(21 November, 2022)
Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Sophie Allen, Munaza Ahmed, Antonis C Antoniou, Ruth Cleaver, Tabib Dabir, D Gareth Evans, Ellen Golightly, Rosalyn Jewell, Kelly Kohut, Ranjit Manchanda, Alex Murray, Jennie Murray, Kai-Ren Ong, Adam N Rosenthal, Emma Roisin Woodward, Diana M Eccles, Clare Turnbull, Marc Tischkowitz, On behalf of Consensus meeting attendees, Fiona Lalloo

Biochemical genetics

Original research: Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme (22 September, 2022)
Chia-Feng Yang, Ting-Wei Ernie Liao, Yen-Ling Chu, Li-Zhen Chen, Ling-Yi Huang, Tsui-Feng Yang, Hui-Chen Ho, Shu-Min Kao, Dau-Ming Niu

Cancer genetics

Original research:
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2
(1 November, 2022)
Sue Philpott, Maria Raikou, Ranjit Manchanda, Michelle Lockley, Naveena Singh, Malcolm Scott, D Gareth Evans, Julian Adlard, Munaza Ahmed, Richard Edmondson, Emma Roisin Woodward, Athena Lamnisos, Janos Balega, Angela F Brady, Aarti Sharma, Louise Izatt, Anjana Kulkarni, Vishakha Tripathi, Joyce S Solomons, Kevin Hayes, Helen Hanson, Katie Snape, Lucy Side, Steve Skates, Alistair McGuire, Adam N Rosenthal
Original research:
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations
(16 September, 2022)
Laëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill, Gaia Castelain, Audrey Killian, Julie Hauchard, Thierry Frebourg, Florence Coulet, Alexandra Martins, Martine Muleris, Pascaline Gaildrat
Short report:
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
(21 October, 2022)
Roseline Vibert, Jessica Le Gall, Bruno Buecher, Emmanuelle Mouret-Fourme, Guillaume Bataillon, Véronique Becette, Olfa Trabelsi-Grati, Virginie Moncoutier, Catherine Dehainault, Jennifer Carriere, Mathias Schwartz, Voreak Suybeng, Ivan Bieche, Chrystelle Colas, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Lisa Golmard

Phenotypes

Original research:
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study
(29 August, 2022)
Anne Marie Jelsig, Anette Kjeldsen, Lise Lotte Christensen, Birgitte Bertelsen, John Gásdal Karstensen, Klaus Brusgaard, Pernille M Torring

Chromosomal rearrangements

Original research: Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis (9 September, 2022)
Jakob A Meinel, Verónica Yumiceba, Axel Künstner, Kristin Schultz, Nathalie Kruse, Frank J Kaiser, Paul-Martin Holterhus, Alexander Claviez, Olaf Hiort, Hauke Busch, Malte Spielmann, Ralf Werner

Genotype-phenotype correlations

Original research: Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions (7 September, 2022)
Kenan Zhang, Wuping Yang, Kaifang Ma, Jianhui Qiu, Lei Li, Yawei Xu, Zedan Zhang, Chaojian Yu, Jingcheng Zhou, Yanqing Gong, Lin Cai, Kan Gong
Original research: Identifying the molecular drivers of ALS-implicated missense mutations (30 September, 2022)
Stephanie Portelli, Amanda Albanaz, Douglas Eduardo Valente Pires, David Benjamin Ascher

Copy-number variation

Original research: Recurrent 17q12 microduplications contribute to renal disease but not diabetes (15 September, 2022)
Stuart Cannon, Rhian Clissold, Kittiya Sukcharoen, Marcus Tuke, Gareth Hawkes, Robin N Beaumont, Andrew R Wood, Mark Gilchrist, Andrew T Hattersley, Richard A Oram, Kashyap Patel, Caroline Wright, Michael N Weedon

Novel disease loci

Original research:
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
(14 October, 2022)
Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Leon Schütz, Tobias B Haack, Axel Weber, Eleni Biliouri, Mateja Vinkšel, Anja Zagožen, Borut Peterlin, Shashidhar Pai, Aida Telegrafi, Lindsay B Henderson, Courtney Ells, Lesley Turner, Wim Wuyts, Wim Van Hul, Gretl Hendrickx, Geert R Mortier

Structural variation

Short report:
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
(21 November, 2022)
Alistair T Pagnamenta, Jing Yu, Julie Evans, Philip Twiss, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Amaka C Offiah, Mohamed Wafik, Sarju G Mehta, Mohammed K Javaid, Sarah F Smithson, Jenny C Taylor

Neurogenetics

Original research:
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis
(10 October, 2022)
Nora Oyama, Pieter Vaneynde, Sara Reynhout, Emily M Pao, Andrew Timms, Xiao Fan, Kimberly Foss, Rita Derua, Veerle Janssens, Wendy Chung, Ghayda M Mirzaa

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Table of contents

May 2023 - Volume 60 - 5

Position Statement

Biochemical genetics

Cancer genetics

Phenotypes

Chromosomal rearrangements

Genotype-phenotype correlations

Copy-number variation

Novel disease loci

Structural variation

Neurogenetics

Issue Information

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Table of contents

May 2023 - Volume 60 - 5

Position Statement

Biochemical genetics

Cancer genetics

Phenotypes

Chromosomal rearrangements

Genotype-phenotype correlations

Copy-number variation

Novel disease loci

Structural variation

Neurogenetics

Issue Information