Article
Genetics & Heredity
Bilal Azab, Zain Dardas, Dunia Aburizeg, Muawyah Al-Bdour, Mohammed Abu-Ameerh, Tareq Saleh, Raghda Barham, Ranad Maswadi, Nidaa A. Ababneh, Mohammad Alsalem, Hana Zouk, Sami Amr, Abdalla Awidi
Summary: The study identified a high number of disease-causing variants in IRD-associated genes in Jordanian patients using WES, with three families showing phenotypes different from typically reported clinical findings. This represents the largest genetic analysis of IRDs in the Jordanian population to date, confirming the utility of WES as a powerful tool for molecular diagnosis in large patient cohorts.
Article
Biochemistry & Molecular Biology
Saman Ameri-Mahabadi, Ali Nikfar, Mojdeh Mansouri, Hossein Chiti, Gita Fatemi Abhari, Negin Parsamanesh
Summary: A new deletion in the DMD gene was identified in an Iranian family with Duchenne muscular dystrophy (DMD). This X-linked inheritance pattern is novel in Iran. These findings will facilitate genetic counseling for this family and other patients in the future.
DNA AND CELL BIOLOGY
(2023)
Article
Immunology
Julia Hoeglund, Fatemeh Hadizadeh, Weronica E. Ek, Torgny Karlsson, Asa Johansson
Summary: This study analyzed 200,000 whole-exome sequences from the UK Biobank cohort and identified 220 genes in 55 genomic regions that are associated with eosinophil count. Among these genes, seven are driven by rare variants and two are considered novel eosinophil loci. These findings provide valuable knowledge about the effect of rare variants on eosinophil count and can aid in the identification of therapeutic targets.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Fahri Kucukali, Alexander Neumann, Jasper Van Dongen, Tim De Pooter, Geert Joris, Peter De Rijk, Olena Ohlei, Valerija Dobricic, Isabelle Bos, Stephanie J. B. Vos, Sebastiaan Engelborghs, Ellen De Roeck, Rik Vandenberghe, Silvy Gabel, Karen Meersmans, Magda Tsolaki, Frans Verhey, Pablo Martinez-Lage, Mikel Tainta, Giovanni Frisoni, Oliver Blin, Jill C. Richardson, Regis Bordet, Philip Scheltens, Julius Popp, Gwendoline Peyratout, Peter Johannsen, Lutz Frolich, Yvonne Freund-Levi, Johannes Streffer, Simon Lovestone, Cristina Legido-Quigley, Mara Ten Kate, Frederik Barkhof, Henrik Zetterberg, Lars Bertram, Mojca Strazisar, Pieter Jelle Visser, Christine Van Broeckhoven, Kristel Sleegers
Summary: In this study, the association between rare genetic variation and AD-related biomarker traits was investigated. Several novel gene-trait associations were identified, shedding light on the role of rare coding variation in the pathophysiological processes of AD.
ALZHEIMERS & DEMENTIA
(2022)
Article
Oncology
Tomohiro Tanaka, Yasushi Goto, Masafumi Horie, Ken Masuda, Yuki Shinno, Yuji Matsumoto, Yusuke Okuma, Tatsuya Yoshida, Hidehito Horinouchi, Noriko Motoi, Yasushi Yatabe, Shunichi Watanabe, Noboru Yamamoto, Yuichiro Ohe
Summary: This study investigates somatic single-nucleotide variants or copy number variations in exceptional responders to pemetrexed treatment using whole-exome sequencing. The results suggest that exceptional responders may have a higher number of copy number variations. This study provides important insights into the mechanism of exceptional responses and contributes to genomic findings on thymomas and chemosensitivity.
Article
Cell Biology
Jingran Xu, Li Li, Jie Ren, Xuemei Zhong, Chengxin Xie, Aifang Zheng, Ayiguzali Abudukadier, Maimaitiaili Tuerxun, Sujie Zhang, Lifeng Tang, Dilare Hairoula, Xiaoguang Zou
Summary: This study aimed to clarify the genetic maps of COPD susceptibility in the Kashi population in China. The researchers used whole-exome sequencing and Sanger sequencing to identify genetic variants associated with COPD risk. They found that a specific genetic variant (rs777591AA) significantly reduced the risk of COPD, especially in nonsmokers.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Ting-Yi Lin, Yun-Chia Chang, Yu-Jer Hsiao, Yueh Chien, Ying-Chun Jheng, Jing-Rong Wu, Lo-Jei Ching, De-Kuang Hwang, Chih-Chien Hsu, Tai-Chi Lin, Yu-Bai Chou, Yi-Ming Huang, Shih-Jen Chen, Yi-Ping Yang, Ping-Hsing Tsai
Summary: This study identified five potentially pathogenic variants, including a novel variant that has not been reported previously, through whole-exome sequencing. Further research is needed to clarify the precise roles of these variants in the pathogenesis of retinitis pigmentosa. These findings may contribute to exploring risk variants and upgrading variant annotation databases, potentially aiding in the detection of specific eye diseases in East Asia.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Migle Gabrielaite, Mathias Husted Torp, Malthe Sebro Rasmussen, Sergio Andreu-Sanchez, Filipe Garrett Vieira, Christina Bligaard Pedersen, Savvas Kinalis, Majbritt Busk Madsen, Miyako Kodama, Guel Sude Demircan, Arman Simonyan, Christina Westmose Yde, Lars Ronn Olsen, Rasmus L. Marvig, Olga ostrup, Maria Rossing, Finn Cilius Nielsen, Ole Winther, Frederik Otzen Bagger
Summary: Copy-number variations (CNVs) have significant clinical implications for various diseases and cancers, but detecting relevant CNVs accurately remains challenging. Our study found diverse performance levels among different CNV calling tools, suggesting that combining the best tools could be a potential solution.
Article
Biochemistry & Molecular Biology
Lucas Andre Cavalcanti Brandao, Ronald Rodrigues de Moura, Angelo Valerio Marzano, Chiara Moltrasio, Paola Maura Tricarico, Sergio Crovella
Summary: Unravelling the molecular basis of multifactorial disorders requires new genomic analysis tools that focus on disrupted pathways rather than associated gene variants, as association studies have limitations in understanding the interactions between disease-causing variants. In this study, Variant Enrichment Analysis (VEA) was developed and applied to identify novel pathways altered in patients with complex autoinflammatory skin disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Tiejia Jiang, Jia Gao, Lihua Jiang, Lu Xu, Congying Zhao, Xiaojun Su, Yaping Shen, Weiyue Gu, Xiaohong Kong, Ying Yang, Feng Gao
Summary: The study found that trio-whole exome sequencing can identify potentially pathogenic or likely pathogenic gene variants in pediatric patients with epilepsy, leading to better management and treatment strategies. The research also discovered new genes not previously associated with epilepsy.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Article
Medicine, General & Internal
Maryam Eghbali, Sara Cheraghi, Sara Samanian, Iman Rad, Jafar Meghdadi, Hamideh Akbari, Maryam Honardoost
Summary: This study identified a novel ARMC5 gene variant that is likely responsible for familial PMAH in Iranians. The identified variant may damage the function of the ARMC5 protein. Genetic testing can be used for early diagnosis of PMAH.
Article
Genetics & Heredity
Fei Song, Marta Owczarek-Lipska, Tim Ahmels, Marius Book, Sabine Aisenbrey, Moreno Menghini, Daniel Barthelmes, Stefan Schrader, Georg Spital, John Neidhardt
Summary: This study rapidly identified disease-associated mutations in 26 retinal dystrophy patients through whole exome sequencing, revealing nine novel disease-associated sequence variants. The importance of WES-based mutation analyses in supporting clinical decisions, genetic diagnosis, and genetic counseling is highlighted, emphasizing the need to understand gene function and correlate phenotypes with genotypes for any genetic therapy.
Article
Medical Laboratory Technology
Chunyu Gu, Hong Wang, Jianbo Shu, Jie Zheng, Dong Li, Chunquan Cai, Peiyuan Zhang
Summary: This study described atypical symptoms of A-T in a 5-year-old girl and proposed a dual-omics diagnostic approach combining RNA-seq with WES. The study also discussed phenotypic heterogeneity of A-T among family members and individuals.
CLINICA CHIMICA ACTA
(2021)
Article
Genetics & Heredity
Qianqian Li, Zhanni Chen, Hui Xiong, Ranran Li, Chenguang Yu, Jingjing Meng, Panlai Shi, Xiangdong Kong
Summary: This paper presents a case study of a 10-year-old boy diagnosed with Duchenne muscular dystrophy (DMD), confirming a large partial exonic deletion through whole exome sequencing. It highlights the clinical importance of using multiple molecular genetic testing methods for the diagnosis of rare diseases.
FRONTIERS IN GENETICS
(2021)
Article
Endocrinology & Metabolism
Lei Li, Qixuan Sheng, Huajin Zeng, Wei Li, Qiang Wang, Guanjun Ma, Xinyun Xu, Ming Qiu, Wei Zhang, Chengxiang Shan
Summary: This study provides a comprehensive analysis of the genetic characteristics of hyperplastic parathyroids in THPT, finding multiple driver mutations and enriched pathways involved in the development and progression of the disease.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Clinical Neurology
Paul-Adrian Calburean, Luigi Pannone, Antonio Sorgente, Anais Gauthey, Cinzia Monaco, Antanas Strazdas, Alexandre Almorad, Antonio Bisignani, Gezim Bala, Robbert Ramak, Ingrid Overeinder, Erwin Stroker, Gudrun Pappaert, Sonia Van Dooren, Thomy de Ravel, Mark La Meir, Pedro Brugada, Juan Sieira, Gian-Battista Chierchia, Carlo de Asmundis
Summary: This study evaluated changes in electrocardiographic parameters during ajmaline testing for the diagnosis of Brugada syndrome (BrS). The results showed that important heart rate variability changes were induced by ajmaline in BrS patients, and increased microvolt T wave alternans (mTWA) was observed only in BrS patients. Patients with BrS who experienced ventricular arrhythmias during follow-up showed worse changes during ajmaline testing, including lower low frequency power and higher maximum mTWA.
CLINICAL AUTONOMIC RESEARCH
(2023)
Article
Medicine, General & Internal
Iulia Potorac, Marie Laterre, Olivier Malaise, Vlad Nechifor, Corinne Fasquelle, Orphal Colleye, Nancy Detrembleur, Hannah Verdin, Sofie Symoens, Elfride De Baere, Adrian F. Daly, Vincent Bours, Patrick Petrossians, Axelle Pintiaux
Summary: Infertility is a common problem in couples, with both female and male factors playing a similar role. Rare congenital disorders can affect both female and male gametogenesis. Mutations in the MCM9 gene have been found to cause premature ovarian insufficiency in females and are also associated with an increased risk of cancer.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Luigi Pannone, Antonio Bisignani, Randy Osei, Anais Gauthey, Antonio Sorgente, Pasquale Vergara, Cinzia Monaco, Domenico Giovanni Della Rocca, Alvise Del Monte, Antanas Strazdas, Joerelle Mojica, Maysam Al Housari, Vincenzo Miraglia, Sahar Mouram, Gaetano Paparella, Robbert Ramak, Ingrid Overeinder, Gezim Bala, Alexandre Almorad, Erwin Stroker, Gudrun Pappaert, Juan Sieira, Thomy de Ravel, Mark La Meir, Pedro Brugada, Gian Battista Chierchia, Sonia Van Dooren, Carlo de Asmundis
Summary: The diagnostic yield of SCN5A gene testing in paediatric BrS patients is 46%, and having a P/LP variant in SCN5A is associated with a worse arrhythmic prognosis in children with BrS. There is no significant difference in the prognosis of ventricular arrhythmias between paediatric and adult BrS patients.
Article
Allergy
Sabrine Belmabrouk, Rania Abdelhedi, Fadia Bougacha, Feriel Bouzid, Hela Gargouri, Imen Ayadi, Nouha Bouayed Abdelmoula, Balkiss Abdelmoula, Nawel Abdellaoui, Riadh Benmarzoug, Nersrine Triki, Mouna Torjmen, Mohamed Kharrat, Mohamed Jmaiel, Najla Kharrat, Ahmed Rebai
Summary: This study aimed to estimate the frequency of self-reported food allergy (FA) and identify the common allergens in the Sfax region of Tunisia. The results showed that skin reactions were the most common symptoms of FA in both children and adults. Fruits and seafood were the most prevalent allergens, and most food allergies were mutually exclusive. Bayesian network modeling was used to analyze the relationship between different food allergies.
WORLD ALLERGY ORGANIZATION JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Jolien Geers, Maria-Luiza Luchian, Andreea Motoc, Jari De Winter, Bram Roosens, Maria Bjerke, Ann Van Eeckhaut, Mandy M. J. Wittens, Simke Demeester, Ramses Forsyth, Thomy de Ravel, Veronique Bissay, Rik Schots, Frederik H. Verbrugge, Caroline Weytjens, Ilse Weets, Bernard Cosyns, Steven Droogmans
Summary: The study evaluated the prognostic value of ejection fraction (EF), left ventricular global longitudinal strain (LVGLS), and global constructive work (GCW) in patients with cardiac amyloidosis (CA). The results showed that GCW may have additional prognostic value in predicting heart failure hospitalization and all-cause mortality.
INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
(2023)
Article
Cardiac & Cardiovascular Systems
Antonio Bisignani, Luigi Pannone, Alvise Del Monte, Ivan Eltsov, Ida Anna Cappello, Juan Sieira, Cinzia Monaco, Gezim Bala, Sahar Mouram, Domenico Giovanni Della Rocca, Erwin Stroker, Ingrid Overeinder, Alexandre Almorad, Gudrun Pappaert, Anais Gauthey, Thomy de Ravel, Sonia Van Dooren, Antonio Sorgente, Mark La Meir, Andrea Sarkozy, Pedro Brugada, Gian-Battista Chierchia, Carlo de Asmundis
Summary: This study assessed underlying atrial cardiomyopathy in Brugada syndrome (BrS) and the effect of ajmaline test on the atrium of BrS patients using electrocardiogram imaging (ECGI). The study found that total atrial conduction time (TACT) and local atrial conduction time (LACT) were significantly prolonged in BrS patients, particularly after ajmaline administration and in patients with pathogenic SCN5A variants. TACT was identified as an independent predictor of atrial tachyarrhythmias (ATas) in BrS patients.
JACC-CLINICAL ELECTROPHYSIOLOGY
(2023)
Meeting Abstract
Psychiatry
B. Abdelmoula, S. Sellami, W. Smaoui, N. Bouayed Abdelmoula
EUROPEAN PSYCHIATRY
(2023)
Meeting Abstract
Psychiatry
B. Abdelmoula, N. Bouayed Abdelmoula
EUROPEAN PSYCHIATRY
(2023)
Meeting Abstract
Psychiatry
E. Abdelmoula, N. Bouayed Abdelmoula
EUROPEAN PSYCHIATRY
(2023)
Meeting Abstract
Psychiatry
B. Abdelmoula, H. Sellami, S. Neji, M. Torjmen, N. Bouayed Abdelmoula
EUROPEAN PSYCHIATRY
(2023)
Meeting Abstract
Psychiatry
B. Abdelmoula, N. Kharrat, R. Abdelhedi, N. Bouayed Abdelmoula
EUROPEAN PSYCHIATRY
(2023)
Meeting Abstract
Psychiatry
N. Bouayed Abdelmoula, B. Abdelmoula, S. Sellami
EUROPEAN PSYCHIATRY
(2023)
Meeting Abstract
Psychiatry
N. Bouayed Abdelmoula, B. Abdelmoula
EUROPEAN PSYCHIATRY
(2023)
Meeting Abstract
Psychiatry
N. Bouayed Abdelmoula, E. Abdelmoula
EUROPEAN PSYCHIATRY
(2023)
Article
Cardiac & Cardiovascular Systems
Luigi Pannone, Anais Gauthey, Giulio Conte, Randy Osei, Daniela Campanale, Enrico Baldi, Paola Berne, Alessandro Vicentini, Pasquale Vergara, Antonio Sorgente, Christine Rootwelt-Norberg, Domenico Giovanni Della Rocca, Cinzia Monaco, Antonio Bisignani, Vincenzo Miraglia, Marcello Spolverini, Gaetano Paparella, Ingrid Overeinder, Gezim Bala, Alexandre Almorad, Erwin Straker, Thomy de Ravel, Argelia Medeiros-Domingo, Juan Sieira, Kristina H. Haugaa, Pedro Brugada, Mark La Meir, Angelo Auricchio, Gian-Battista Chierchia, Sonia Van Dooren, Carlo de Asmundis
Summary: This study aims to define the genetic background of individuals with idiopathic ventricular fibrillation (IVF) using large gene panel analysis and correlate genetics with long-term clinical outcomes. It was found that Pthorn or VUS carrier status is a predictor of ventricular arrhythmia occurrence.
JACC-CLINICAL ELECTROPHYSIOLOGY
(2023)
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)