Multiple intracerebral hematomas during SEEG recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen IV gene mutation and oral nicot... by Markus Leitinger, Serena Broggi, Mathias Spendel, Gudrun Kalss, Ivan Petrović, Herbert Krainz, Fabio Rossini, Julia Höfler, Andreea Toma, Giorgi Kuchukhidze, Matthias Mauritz, Kai‐Nicolas Poppert, Bernardo Crespo‐Pimentel, Pilar Bosque‐Varela, Anna Pleyers, Patricia Ganger, Dieter Kotzot, Davor Lessel, Christoph J. Griessenauer, Eugen Trinka

“…We performed the investigation of the clotting system and whole‐exome sequencing (WES). WES identified a heterozygous mutation c.4698G>T, p.…”
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Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations by Jian Ren, Daochao Wang, Leiming Wang, Chendan Jiang, An Tian, Ziwei Cui, Yeqing Ren, Lisong Bian, Gao Zeng, Guolu Meng, Yongzhi Shan, Jiantao Liang, Xinru Xiao, Jie Tang, Yukui Wei, Chuan He, Liyong Sun, Yongjie Ma, Jiaxing Yu, Guilin Li, Ming Ye, Peng Hu, Jingwei Li, Ye Li, Lijian Niu, Qianwen Li, Feng Ling, Jan-Karl Burkhardt, Hongqi Zhang, Tao Hong

“…We analyzed 290 surgical specimens from symptomatic CCM patients, utilizing whole-exome sequencing, droplet digital PCR, and targeted panel sequencing, alongside immunohistology to examine genotypic and phenotypic differences. …”
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Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorecta... by Romy Walker, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Susan G. Preston, Sharelle Joseland, Bernard J. Pope, Ana B.D. Medeiros, Brenely V. Murillo, Nicholas Pachter, Kevin Sweet, Allan D. Spigelman, Alexandra Groves, Margaret Gleeson, Krzysztof Bernatowicz, Nicola Poplawski, Lesley Andrews, Emma Healey, Steven Gallinger, Robert C. Grant, Aung K. Win, John L. Hopper, Mark A. Jenkins, Giovana T. Torrezan, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan, Peter Georgeson

“…The aim was to determine if adenomas from biallelic cases demonstrated these mutational signatures at diagnostic levels. Methods: Whole-exome sequencing of FFPE tissue and matched blood-derived DNA was performed on 9 adenomas and 15 CRCs from 13 biallelic MUTYH cases, on 7 adenomas and 2 CRCs from 5 biallelic NTHL1 cases and on 27 adenomas and 26 CRCs from 46 non-hereditary (sporadic) participants. …”
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Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis by U. Gomez-Pinedo, J.A. Matías-Guiu, L. Torre-Fuentes, P. Montero-Escribano, L. Hernández-Lorenzo, V. Pytel, P. Maietta, S. Alvarez, I. Sanclemente-Alamán, L. Moreno-Jimenez, D. Ojeda-Hernandez, N. Villar-Gómez, M.S. Benito-Martin, B. Selma-Calvo, L. Vidorreta-Ballesteros, R. Madrid, J. Matías-Guiu

“…Methods: We included 138 individuals from 23 families including at least 2 members with MS, and analyzed the presence of exonic variants of TNFRSF1A through whole-exome sequencing. We also conducted a functional study to analyze the pathogenic mechanism of variant rs4149584 (-g.6442643C > G, NM_001065.4:c.362 G > A, R92Q) by plasmid transfection into human oligodendroglioma (HOG) cells, which behave like oligodendrocyte lineage cells; protein labeling was used to locate the protein within cells. …”
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RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa by Satoshi Katagiri, Takaaki Hayashi, Masakazu Akahori, Takeshi Itabashi, Jo Nishino, Kazutoshi Yoshitake, Masaaki Furuno, Kazuho Ikeo, Tetsuji Okada, Hiroshi Tsuneoka, Takeshi Iwata

“…To investigate genetic and clinical features of patients with rhodopsin (RHO) mutations in two Japanese families with autosomal dominant retinitis pigmentosa (adRP). Methods. Whole-exome sequence analysis was performed in ten adRP families. …”
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