Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review by Fang Cao, Yingyu Shi, Fang Deng, Yu Yan

“…Immunological assessment revealed abnormalities in immunoglobulin levels and T-cell distribution, suggesting a potential immune deficiency. Whole exome sequencing did not identify any genetic variants highly associated with and definitively pathogenic for bronchiectasis but detected a compound heterozygous missense mutation c.420A>T (p.R140S) in the IL2RG gene, linked to primary combined immunodeficiency (CID), a clinical phenotype rarely reported in China due to this gene mutation. …”
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Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases by Jaemoon Shin, Toyofumi Fujiwara, Hirotomo Saitsu, Atsuko Yamaguchi

“…Abstract Background Virtual Gene Panels (VGP) comprising disease-associated causal genes are utilized in the diagnosis of rare genetic diseases to evaluate candidate genes identified by whole-genome and whole-exome sequencing. VGPs generated by the PanelApp software were utilized in a UK 100,000 Genome Project pilot study to filter candidate genes, thus enhancing diagnostic efficiency for rare diseases. …”
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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia by Michiyo Ando, Yoshihiko Aoki, Yasuto Sano, Junya Adachi, Masatoshi Sana, Satoru Miyabe, Satoshi Watanabe, Shogo Hasegawa, Hitoshi Miyachi, Junichiro Machida, Mitsuo Goto, Yoshihito Tokita

“…Here, we investigated the genetic causes of sporadic congenital tooth agenesis. Exome sequencing, followed by Sanger sequencing, identified a novel single-nucleotide deletion in WNT10A (NC_000002.12(NM_025216.3):c.802del), which was not found in the healthy parents of the patient. …”
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Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report by Yunxi Li, Ruijuan Li, Yanyan Pan, Weiran Zhou, Xingcui Wang, Linlin Dong, Xuemei Liu, Hongxia Zhang

“…Further examination revealed anemia, hypoalbuminemia, and multiorgan damage. Whole-exome sequencing further revealed two novel heterozygous variants of TMPRSS15: c.2611C>T (p.Arg871Ter) and c.1584_1585insCTTT (p.Glu529LeufsTer2). …”
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Colonic Adenocarcinoma with Plasmacytoid Feature: Histopathology and Molecular Characteristics of a Rare Neoplasm with an Unusual Presentation by Noor Marji, Jasrerman Dhillon, Gregory Y. Lauwers, Sebastian Feuerlein, Reza Nikfar, Monica Chatwal, Aram Vosoughi

“…Molecular studies identified BRAF V600E, SMAD4, and p53 mutations associated with aggressive colorectal adenocarcinoma with mucinous/signet ring cell features. Further whole-exome sequencing and whole transcriptome analysis confirmed the colorectal origin of the tumor. …”
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Whole exome analysis of primary immunodeficiency by E. S. Rahmani, Н. Azarpara, M. Karimipoor, Н. Rahimi

“…However, thanks to advancing in the DNA sequencing method and availability of sophisticated sequencers molecular characterization of genetic disorders have been revolutionized. The whole exome sequencing (WES) method can help clinicians detect Mendelian disease and other complex genetic disorders. …”
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Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract by Hui Dang, Min Peng, Weiyue Gu, Gang Ding, Yuqin Sun, Zhongkai Hao, Ning Wei, Xu Wang, Chenming Zhang, Aijun Deng

“…Genetic test was performed on the blood samples of the fourth family generation (23 people) via whole exome sequencing (trio-WES) and Sanger sequencing. Results. …”
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Discontiguous recurrences of IDH-wildtype glioblastoma share a common origin with the initial tumor and are frequently hypermutated by Malcolm F. McDonald, Sricharan Gopakumar, Tareq A. Juratli, Ilker Y. Eyüpoglu, Ganesh Rao, Jacob J. Mandel, Ali Jalali

“…In our institutional database, we identified 22 patients with targeted exome sequencing of pairs of initial and recurrent IDH-wildtype glioblastoma. …”
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A very low carbohydrate diet improved metabolic profile in congenital generalized lipodystrophy type 4 by Sayantan Chakraborty, Subhankar Roy, Debaditya Das, Sayantani Chatterjee, Pranab Kumar Sahana, Satinath Mukhopadhyay

“…A switch to a very low carbohydrate (30% of total calorie) diet led to a remarkable improvement in glucose and lipid profiles (the daily insulin requirement came down by 50% and triglyceride level came down to 600 mg/dL from 950 mg/dL). A whole-exome sequencing study confirmed congenital generalized lipodystrophy type 4. …”
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Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality by Guangzhong Jiao, Jinhao Xing, Zhaoli Du, Hongchu Bao, Xiaoyan Liu

“…We have identified a case of infertile female for whom all oocytes fail to mature and are arrested at MI. Whole-exome sequencing revealed a compound heterozygous mutant (c.533C > A: p.Val458Ala; c.1373T > C: p.Ala178Glu) in cell division cycle 20 (CDC20). …”
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Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report by Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui, Hongzhou Cui

“…Genetic analysis revealed heterozygous variants in the TRPV3 gene using whole-exome sequencing of case-parents’ trios. This mutation was not identified in his mother. …”
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Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report by Mónica Fernandes-Pineda, Andrés F. Zea-Vera

“…We present a case involving a 15-year-old male who displayed an immunological phenotype that bore a striking resemblance to hyper-IgM syndrome. Whole exome sequencing was undertaken to pinpoint the underlying genetic mutation. …”
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Unveiling the prenatal features of HADDS: A case report and literature review by Lina Hu, Dongzhi Li, Li Zhen, Yanan Wang

“…HADDS was diagnosed by Whole Exome Sequencing on a family trio (Trio-WES) for recurrent urinary tract infection with dysuria at 6 months of age, with a normal karyotype and chromosomal microarray analysis (CMA). …”
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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

“…Case presentation Four patients of Indian origin with growth deficiency and additional clinical features of MOPDII were recruited from a tertiary health care center and whole exome sequencing was performed on blood samples from these patients. …”
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NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness by Penghui Chen, Longxia He, Xiuhong Pang, Xiaowen Wang, Tao Yang, Hao Wu

“…No pathogenic mutation was identified by targeted NGS in 72 nonsyndromic and another 72 syndromic deafness genes. Whole exome sequencing, however, identified a p.E313K mutation in NLRP3, a gene reported to cause syndromic deafness Muckle-Wells Syndrome (MWS) but not included in any targeted NGS panels for deafness in previous reports. …”
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SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann

“…Here a novel SOX5 loss-of-function point mutation, c.13C>T (p.Arg5X), is reported, identified in the course of exome sequencing applied to the diagnosis of an unexplained adult-onset motor disorder. …”
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Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue by Jieun Lee, Sung-Min Cho, Min Sung Kim, Sug Hyung Lee, Yeun-Jun Chung, Seung-Hyun Jung

“…In this study, we performed whole-exome sequencing for a breast cancer tissue and identified PTEN p.H259fs*7 frameshift mutation. …”
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Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User’s Point of View by Woori Jang, Joonhong Park, Hyojin Chae, Myungshin Kim

“…Assessing the impact of variants of unknown significance on splicing has become a critical issue and a bottleneck, especially with the widespread implementation of whole-genome or exome sequencing. Although multiple in silico tools are available, the interpretation and application of these tools are difficult and practical guidelines are still lacking. …”
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Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations by Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI

“…Methods: We investigated 19 Turkish patients from 17 unrelated families using clinical exome sequencing or multigene panel screening. Results: Sixteen likely pathogenic or pathogenic variants were detected in 13 unrelated patients. …”
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Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver by Andrey Frolov, Craig Lawson, Joshua Olatunde, James T. Goodrich, John R. Martin III

“…The histological analysis of the latter revealed atypical, noncompensatory massive bone overproduction. Exome sequencing of DNA extracted from the cadaveric tissue specimen performed on the Next Generation Sequencing (NGS) platform yielded 81 genetic variants identified as pathologic. …”
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