Journal of Medical Genetics: 58 (9)

Cancer genetics

Short report:
Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN)
(11 September, 2020)
Zerin Hyder, Adele Fairclough, Mike Groom, Joan Getty, Elizabeth Alexander, Elke M van Veen, Guy Makin, Chitra Sethuraman, Vivian Tang, D Gareth Evans, Eamonn R Maher, Emma R Woodward

Short report:
Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population
(17 August, 2020)
Zixin Qin, Cheong Nang Kuok, Hui Dong, Luhan Jiang, Li Zhang, Maoni Guo, Hio Kuan Leong, Lei Wang, Grace Meng, San Ming Wang

Original research:
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function
(25 August, 2020)
Noraldin Al-deri, Volkan Okur, Priyanka Ahimaz, Miroslav Milev, Zaheer Valivullah, Jacob Hagen, Yufeng Sheng, Wendy Chung, Michael Sacher, Mythily Ganapathi

Original research: Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy (29 September, 2020)
Justine Géraud, Klaus Dieterich, John Rendu, Emmanuelle Uro Coste, Murielle Dobrzynski, Pascale Marcorelle, Christine Ioos, Norma Beatriz Romero, Eloise Baudou, Julie Brocard, Anne-Cécile Coville, Julien Fauré, Michel Koenig, Raul Juntas Morales, Emmanuelle Lacène, Angéline Madelaine, Isabelle Marty, Henri Pegeot, Corinne Theze, Aurore Siegfried, Mireille Cossee, Claude Cances

Original research: Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics (15 October, 2020)
Gina Ravenscroft, Joshua S Clayton, Fathimath Faiz, Padma Sivadorai, Di Milnes, Rob Cincotta, Phillip Moon, Ben Kamien, Matthew Edwards, Martin Delatycki, Phillipa J Lamont, Sophelia HS Chan, Alison Colley, Alan Ma, Felicity Collins, Lucinda Hennington, Teresa Zhao, George McGillivray, Sondhya Ghedia, Katherine Chao, Anne O'Donnell-Luria, Nigel G Laing, Mark R Davis
Original research:
Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment
(20 August, 2020)
Pingping Song, Yuqing Guan, Xia Chen, Chaochen Wu, An Qiao, Haishan Jiang, Qi Li, Yingwei Huang, Wei Huang, Miaojing Xu, Ouattara Niemtiah, Chao Yuan, Wei Li, Liang Zhou, Zhongju Xiao, Suyue Pan, Yafang Hu

Original research: Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies (11 September, 2020)
Mareike Dahmer-Heath, Valentin Schriever, Sabine Kollmann, Carolin Schleithoff, Andrea Titieni, Metin Cetiner, Ludwig Patzer, Burkhard Tönshoff, Matthias Hansen, Petra Pennekamp, Joachim Gerß, Martin Konrad, Jens König
Original research: Determinants of quality of life in Rett syndrome: new findings on associations with genotype (25 August, 2020)
Jonathan Mendoza, Jenny Downs, Kingsley Wong, Helen Leonard

Short report:
RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports
(8 September, 2020)
Mostafa El Hajjam, Ahmed Mekki, Aurelien Palmyre, Melanie Eyries, Florent Soubrier, Isabelle Bourgault Villada, Augustin Ozanne, Robert Yves Carlier, Thierry Chinet
Short report:
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
(25 August, 2020)
Adela Chirita-Emandi, Nicoleta Andreescu, Cristina Popa, Alexandra Mihailescu, Anca-Lelia Riza, Razvan Plesea, Mihai Ioana, Smaranda Arghirescu, Maria Puiu