Article
Genetics & Heredity
Asuman Gedikbasi, Guven Toksoy, Meryem Karaca, Cagri Gulec, Mehmet Cihan Balci, Dilek Gunes, Seda Gunes, Ayca Dilruba Aslanger, Gokcen Unverengil, Birsen Karaman, Seher Basaran, Mubeccel Demirkol, Gulden Fatma Gokcay, Zehra Oya Uyguner
Summary: In this study, bi-genomic DNA sequencing was performed to identify the genetic etiology in families with mitochondrial diseases. The results showed that 67% of the families were clarified by DNA sequencing, with 13% diagnosed through mtDNA sequencing and 54% through exome sequencing. The presence of weakness and muscle wasting highlighted the importance of considering limb-girdle muscular dystrophy as a differential diagnosis. Accurate diagnosis is crucial for genetic counseling and making appropriate treatment referrals.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Min-Jee Kim, Mi-Sun Yum, Go Hun Seo, Tae-Sung Ko, Beom Hee Lee
Summary: The use of whole-exome sequencing (WES) in diagnosing pediatric patients with movement disorders has shown high detection rates and clinical benefits, leading to changes in clinical management and tailored treatments.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Yvonne Poker, Sandra von Hardenberg, Winfried Hofmann, Ming Tang, Ulrich Baumann, Nicolaus Schwerk, Martin Wetzke, Viola Lindenthal, Bernd Auber, Brigitte Schlegelberger, Hagen Ott, Philipp von Bismarck, Dorothee Viemann, Frank Dressler, Christian Klemann, Anke Katharina Bergmann
Summary: Monogenic autoinflammatory diseases (AID) are a growing group of innate immune system defects causing systemic inflammation. This study evaluated different diagnostic strategies, including virtual gene panels and whole exome sequencing (WES), for pediatric patients with suspected monogenic AID. The results showed that analyzing virtual gene panels had a higher diagnostic yield compared to WES analysis, suggesting that WES as a first-tier diagnostic analysis is of limited benefit for monogenic AID.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Tiziana Vaisitti, Valeria Bracciama, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Martina Callegari, Silvia Kalantari, Fiorenza Mioli, Carmelo Maria Romeo, Maria Luca, Roberta Camilla, Francesca Mattozzi, Bruno Gianoglio, Licia Peruzzi, Antonio Amoroso, Silvia Deaglio
Summary: Inherited kidney diseases account for a significant proportion of kidney failure in children, leading to increased mortality, high healthcare costs, and the need for organ transplantation. Next-generation sequencing technologies have the potential to improve diagnosis and enable personalized medical management.
Article
Genetics & Heredity
Kristina Grigalioniene, Birute Burnyte, Laima Ambrozaityte, Algirdas Utkus
Summary: A comprehensive analysis of mtDNA variants in patients with suspected MD revealed a wide spectrum of rare mitochondrial or neurodevelopmental diseases, highlighting the importance of extensive genetic profiling for rapid diagnosis and improved care.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Multidisciplinary Sciences
Anke Faehnrich, Isabel Stephan, Misa Hirose, Franziska Haarich, Mosab Ali Awadelkareem, Saleh Ibrahim, Hauke Busch, Inken Wohlers
Summary: This study created the most comprehensive quality-controlled North and East African mitochondrial dataset to date and used it to characterize mitochondrial genetic variation in this region. The study identified previously unexplored common variants in mitochondrial genomes of North and East Africa, leading to novel phylogenetic relationships between haplogroups present in these regions.
JOURNAL OF ADVANCED RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Meng-Che Tsai, Yun-Han Weng, Yu-Fang Lin, Yi-Chieh Wang, Hui-Wen Yu, Yen-Yin Chou, Peng-Chieh Chen
Summary: DSDs are rare and phenotypically variable diseases, and the genetic causes of most cases of 46XY DSDs remain unknown. By using whole-exome sequencing and multiplex ligation-dependent probe amplification, we identified genetic etiologies for 14 out of 20 male DSD patients, which expanded our understanding of sex development and related congenital disorders.
Article
Genetics & Heredity
Hosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, Md. Atikur Rahaman, K. M. Furkan Uddin, Nasna Nassir, Ghausia Begum, Reem Abdel Hameid, Muhammad Sougatul Islam, Tahrima Arman Tusty, Mohammad Basiruzzaman, Shaoli Sarkar, Mazharul Islam, Sharmin Jahan, Elaine T. Lim, Marc Woodbury-Smith, Dimitri James Stavropoulos, Darren D. O'Rielly, Bakhrom K. Berdeiv, A. H. M. Nurun Nabi, Mohammed Nazmul Ahsan, Stephen W. Scherer, Mohammed Uddin
Summary: Rare genetic diseases affect a significant number of individuals worldwide, and whole-exome sequencing in this study identified pathogenic variants in five children from Bangladesh. Variants in disease-associated genes were found, adding to the genetic heterogeneity of rare genetic diseases. The study provides insights into the genetic profile of rare genetic diseases in the Bangladesh population.
NPJ GENOMIC MEDICINE
(2021)
Article
Allergy
Lisa R. Forbes, Olive S. Eckstein, Nitya Gulati, Erin C. Peckham-Gregory, Nmazuo W. Ozuah, Joseph Lubega, Nader K. El-Mallawany, Jennifer E. Agrusa, M. Cecilia Poli, Tiphanie P. Vogel, Natalia S. Chaimowitz, Nicholas L. Rider, Emily M. Mace, Jordan S. Orange, Jason W. Caldwell, Juan C. Aldave-Becerra, Stephen Jolles, Francesco Saettini, Hey J. Chong, Asbjorg Stray-Pedersen, Helen E. Heslop, Kala Y. Kamdar, R. Helen Rouce, Donna M. Muzny, Shalini N. Jhangiani, Richard A. Gibbs, Zeynep H. Coban-Akdemir, James R. Lupski, Kenneth L. McClain, Carl E. Allen, Ivan K. Chinn
Summary: This study aimed to determine the spectrum of genomic immunologic defects in pediatric nonmalignant lymphoproliferative disorders (PLPD). Whole exome sequencing identified likely genetic errors of immunity in a significant percentage of PLPD families. The presence of a genetic etiology was associated with younger age and hemophagocytic lymphohistiocytosis. Identification of a molecular diagnosis provided treatment options and led to management changes for some patients.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Yining Zhao, Yongwei Li, Xiaoliang Fang, Lei He, Yanjie Fan, Hongquan Geng, Jitao Wu
Summary: This study aimed to improve the diagnostic capacity of exome sequencing for patients with primary hyperoxaluria. By performing extended analyses of non-canonical splicing site and copy number variant, the diagnostic yield was increased.
Article
Biochemistry & Molecular Biology
Sanjana Saravanan, Caitlin J. Lewis, Bhavna Dixit, Matthew S. O'Connor, Alexandra Stolzing, Amutha Boominathan
Summary: This review discusses the various pathologies caused by mtDNA mutations and evaluates current therapeutic approaches. The potential value of allotopic expression as a gene therapy method for restoring mitochondrial health is highlighted.
Article
Genetics & Heredity
Eu Jeen Yang, Ye Jee Shim, Heung Sik Kim, Young Tak Lim, Ho Joon Im, Kyung-Nam Koh, Hyery Kim, Jin Kyung Suh, Eun Sil Park, Na Hee Lee, Young Bae Choi, Jeong Ok Hah, Jae Min Lee, Jung Woo Han, Jae Hee Lee, Young-Ho Lee, Hye Lim Jung, Jung-Sook Ha, Chang-Seok Ki
Summary: This study successfully diagnosed 10 patients with Glanzmann thrombasthenia and 1 patient with platelet type bleeding disorder 18 using next-generation sequencing (NGS). Common variants were found in ITGB3 and ITGB2B in Korean patients, as well as novel variants in GT and RASGRP2. The application of NGS proved to be effective for accurately diagnosing heterogeneous inherited platelet function disorders.
Article
Cell & Tissue Engineering
Elad Jacoby, Moriya Ben Yakir-Blumkin, Shiri Blumenfeld-Kan, Yehuda Brody, Amilia Meir, Naomi Melamed-Book, Tina Napso, Gat Pozner, Esraa Saadi, Ayelet Shabtay-Orbach, Natalie Yivgi-Ohana, Noa Sher, Amos Toren
Summary: The study introduces a novel approach called Mitochondrial Augmentation Therapy (MAT) that can ex vivo augment hematopoietic stem and progenitor cells (HSPCs) with normal exogenous mitochondria, improving their mitochondrial content and oxygen consumption, and showing potential disease-modifying therapy effects in animal models.
NPJ REGENERATIVE MEDICINE
(2021)
Article
Clinical Neurology
Isabel Haviland, Carolyn I. Daniels, Caitlin A. Greene, Jacqueline Drew, Jamie A. Love-Nichols, Lindsay C. Swanson, Lacey Smith, Duyu A. Nie, Timothy Benke, Beth R. Sheidley, Bo Zhang, Annapurna Poduri, Heather E. Olson
Summary: This study shows that genetic diagnosis has a significant impact on medical management in individuals with early-onset epilepsy, affecting treatment choices, care coordination, and prognosis.
PEDIATRIC NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Jun Feng, Zhaowei Chen, Wei Liang, Zhongping Wei, Guohua Ding
Summary: The kidney, which is a mitochondria-rich organ, is affected by mitochondria-related pathologies. Damage to mitochondrial DNA (mtDNA) plays a role in kidney diseases, including acute kidney injury (AKI) and chronic kidney disease (CKD). MtDNA damage is closely associated with loss of kidney function, and the levels of mtDNA in peripheral serum and urine can reflect kidney injury. Alleviating mtDNA damage can promote mitochondrial function recovery and reduce kidney injury. Therefore, mtDNA damage may serve as a novel biomarker for assessing kidney injury and provide a new therapeutic option for kidney diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Hematology
Fan Jiang, Gui-Zhen Lyu, Victor Wei Zhang, Dong-Zhi Li
Summary: This study utilized whole-genome sequencing with long read at 400 bp to accurately detect thalassemia deletions in seven patients. The results revealed heterozygous deletions in all patients, including three in the alpha-gene cluster, three in the beta-gene cluster, and one in both globin clusters. Long-read WGS shows promise in enhancing the diagnosis of genetic diseases with pseudogenes or highly duplicated sequences.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)
Article
Cell Biology
Zhimei Liu, Masaru Shimura, Li Zhang, Weihua Zhang, Jianing Wang, Minako Ogawa-Tominaga, Junling Wang, Xiaohui Wang, Junlan Lv, Wei Shi, Victor Wei Zhang, Kei Murayama, Fang Fang
Summary: This study reported a rare case of MECR-related mitochondrial disease in a Chinese patient, presenting with childhood-onset dystonia and basal ganglia abnormalities but no optic atrophy. Disease progression was controlled with lipoic acid treatment, and visual impairment was not observed.
Article
Multidisciplinary Sciences
Kunjing Gong, Min Xia, Yaqin Wang, Na Wang, Ying Liu, Victor Wei Zhang, Hong Cheng, Yuqing Chen
Summary: Genes UMOD, HNF1B, MUC1, REN, and SEC61A1 are associated with autosomal dominant tubulointerstitial kidney disease (ADTKD). A study of 48 probands and their family members revealed potential associations between genotype and outcomes, with UMOD gene cysteine substitutions showing a better prognosis. Follow-up data suggested suspected ADTKD individuals had a better prognosis compared to ADTKD individuals.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Li Shu, Qianjun Zhang, Qi Tian, Sai Yang, Xingwang Peng, Xiao Mao, Liming Yang, Juan Du, Hua Wang
Summary: The study found that some neurodevelopmental diseases apparently caused by de novo variants may actually be due to parental mosaic variants, which could increase the risk of disease recurrence. By deep sequencing parental samples, 14 parental disease-causing mosaic variants in 11 genes were identified, with one recurrent variant detectable prenatally.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Developmental Biology
Chengqing Yang, Ying Zhang, Jiuwei Li, Zhenfeng Song, Zhi Yi, Fei Li, Jiao Xue, Wei Zhang, Chunli Wang
Summary: A Chinese boy with hearing loss, visual impairment, and motor retardation was found to have two novel compound heterozygous variants in the FDXR gene. In addition to hearing loss and visual impairment, this boy had more severe clinical manifestations, including motor retardation, and died in infancy after infection. This study provides new insights into FDXR variants and their associated phenotypes, contributing to clinical diagnosis of related diseases.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
(2021)
Article
Genetics & Heredity
Jianbo Zhao, Guizhen Lyu, Changhong Ding, Xiaohui Wang, Jiuwei Li, Weihua Zhang, Xinying Yang, Victor Wei Zhang
Summary: This study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations. Through retrospective analysis of a Rahman syndrome family and review of published reports, the study identified the clinical characteristics of HIST1H1E gene mutations. Rahman syndrome is a rare autosomal dominant disorder characterized by facial abnormalities, intellectual disability, motor delay, and speech delay.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Multidisciplinary Sciences
Haifeng Gao, Jie Wang, Jing An, Shuyu Liu, Yan Li, Songtao Ding, Yi Zhang, Ying Chen
Summary: This study analyzed the effects of prenatal professional breastfeeding education for the family and found that it can help mothers master breastfeeding latch skills and reduce the risk of nipple damage.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Fang Chen, Zhiwei Xie, Victor Wei Zhang, Chen Chen, Huifeng Fan, Dongwei Zhang, Wenhui Jiang, Chunli Wang, Peiqiong Wu
Summary: We report two pediatric patients with shortness of breath, dyspnea, and hypoxemia, who were diagnosed with diffuse ILD based on chest CT findings. Whole exome sequencing identified rare compound heterozygous mutations in the ABCA3 gene, resulting in surfactant protein dysfunction and causing ILD in both patients.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Fan Chen, Shan Guo, Xuesong Li, Shengxuan Liu, Li Wang, Victor Wei Zhang, Hui Xu, Zhihua Huang, Yanqin Ying, Sainan Shu
Summary: Niemann-Pick disease is a common lysosomal storage disease with cholestatic liver disease being its typical clinical phenotype. Treatment involves ursodeoxycholic acid and other liver protection drugs. Genetic analysis revealed two cases of Niemann-Pick disease type C in early infancy, showing signs of immune system hyperactivity besides cholestatic jaundice.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Xiangtao Wu, Liang Chen, Weihong Lu, Shaoru He, Xiaowen Li, Lingling Sun, Longjiang Zhang, Dejuan Wang, Ruigui Zhang, Yumei Liu, Yunxia Sun, Zhichun Feng, Victor Wei Zhang
Summary: This study analyzed the data of 12 patients with CHARGE syndrome from four hospitals in China and discovered five novel variants in the CHD7 gene, expanding the mutational spectrum of the gene and the phenotypes associated with CHARGE syndrome. The study also suggests a potential correlation between mutation sites and phenotypes.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
Summary: This study investigated the contribution of low-level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with TSC. The findings highlight the need to change laboratory practice to improve diagnostic yield.
Article
Obstetrics & Gynecology
Wenzhu Yu, Shaodi Zhang, Baoli Yin, Chang Dong, Victor Wei Zhang, Cuilian Zhang
Summary: TUBB8 is a disease-causing gene in female infertility, and this study identified novel heterozygous missense variants in TUBB8 gene in four families, expanding the mutational spectrum and confirming its diagnostic utility in female infertility.
REPRODUCTIVE SCIENCES
(2023)
Article
Genetics & Heredity
Keya Tong, Wenbin He, Yao He, Xiurong Li, Liang Hu, Hao Hu, Guangxiu Lu, Ge Lin, Chang Dong, Victor Wei Zhang, Juan Du, Dongyun Liu
Summary: Medical exome sequencing was used to identify carrier spectrum in the Chinese population, showing that 94.5% of individuals carried at least one disease-causing variant. This study highlights the importance of Expanded Carrier Screening in identifying at-risk couples.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Fang Fu, Ru Li, Qiu-Xia Yu, Xiao Dang, Shu-Juan Yan, Hang Zhou, Ken Cheng, Rui-Bin Huang, You Wang, Yong-Ling Zhang, Xiang-Yi Jing, Li-Na Zhang, Dong-Zhi Li, Can Liao
Summary: This study aimed to demonstrate the value of comprehensive genomic evaluation in prenatal diagnosis and found that CNV sequencing and clinical exome sequencing can identify clinically significant CNVs and potentially pathogenic mutations in prenatal diagnosis. Additionally, CNV-seq is a reliable and cost-effective technique for detecting CNVs.
Article
Pediatrics
Qi Huang, Cheng Jiang, Jiazhong Sun, Junli Xue, Victor Wei Zhang
Summary: Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant malformation caused by mutations involving the TRPS1 gene. This report presents three intra-familial cases with TRPS1 gene mutations that showed the characteristic features of TRPS.
FRONTIERS IN PEDIATRICS
(2022)