Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review by Wenjie Sun, Hong Yan, Mengxin Sun, Jie Wang, Kunxia Li

“…A series of treatments, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were performed. Relevant literature was reviewed using the search terms “19p13.3” and “19p13.3 microduplication syndrome” in the China Knowledge Network, Wanfang Database, Weipu Journal Service Platform, and PubMed (date range: database establishment to September 2023). …”
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Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome by Masatake Toshimitsu, Shinichi Nagaoka, Shuusaku Kobori, Maki Ogawa, Fumihiko Suzuki, Takema Kato, Shunsuke Miyai, Rie Kawamura, Hidehito Inagaki, Hiroki Kurahashi, Jun Murotsuki

“…Postnatal whole exome sequencing and subsequent chromosomal microarray identified a 3 Mb deletion of chromosomal region 1p36.33–p36.32. …”
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Identification of a Fetal De Novo Splice Variant in ARCN1 Associated With Growth and Skeletal Abnormalities by Wencong He, Zejun Yang, Jianjian Cui, Ruilin Ma, Hui Tao, Yanan Li, Yin Zhao, Yang Pan, Jue Li

“…The potential pathogenic variant was identified throughout the whole exome sequencing and the effects of candidate variants were further validated by a minigene splicing assay. …”
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Transcriptome Concordance Between Borderline Tumors and Endometrioid Carcinoma: An Integrative Genomic Analysis by Mio Takahashi, Kohei Nakamura, Tatsuyuki Chiyoda, Chihiro Okada, Sachio Nohara, Reika Takamatsu, Shintaro Yanazume, Hiroaki Kobayashi, Hiroshi Nishihara, Wataru Yamagami

“…This study aims to address this gap by integrating whole‐exome sequencing (WES) and RNA sequencing (RNA‐seq) to compare BOTs with high‐grade serous carcinoma (HGSC), endometrioid carcinoma (EC), and clear‐cell carcinoma (CCC). …”
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Optimizing the NGS-based discrimination of multiple lung cancers from the perspective of evolution by Ziyang Wang, Xiaoqiu Yuan, Kunkun Sun, Fang Wu, Ke Liu, Yiruo Jin, Olga Chervova, Yuntao Nie, Airong Yang, Yichen Jin, Jing Li, Yun Li, Fan Yang, Jun Wang, Stephan Beck, David Carbone, Guanchao Jiang, Kezhong Chen

“…Abstract Next-generation sequencing (NGS) offers a promising approach for differentiating multiple primary lung cancers (MPLC) from intrapulmonary metastasis (IPM), though panel selection and clonal interpretation remain challenging. Whole-exome sequencing (WES) data from 80 lung cancer samples were utilized to simulate MPLC and IPM, with various sequenced panels constructed through gene subsampling. …”
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Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function by Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J. Falk, Hakon Hakonarson

“…Skeletal muscle biopsy analysis showed no mitochondrial abnormalities or respiratory chain dysfunction. Exome sequencing identified a de novo c.1651C>T (p.R551C) mutation in STXBP1. …”
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Practical Calling Approach for Exome Array-Based Genome-Wide Association Studies in Korean Population by Tae-Joon Park, Lyong Heo, Sanghoon Moon, Young Jin Kim, Ji Hee Oh, Sohee Han, Bong-Jo Kim

“…Exome-based genotyping arrays are cost-effective and have recently been used as alternative platforms to whole-exome sequencing. However, the automated clustering algorithm in an exome array has a genotype calling problem in accuracy for identifying rare and low-frequency variants. …”
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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability by Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI

“…Extensive somatic, neurological, psychiatric, and neuropsychological investigations were performed next to examination of hematological and biochemical parameters including plasma carnitine status. Also, Whole Exome Sequencing (WES) and Next-Generation Metabolic Screening (NGMS) were performed.Results: Moderate intellectual disability along with obsessive and aggressive behaviour in the context of autism spectrum disorders was established as well as symptoms from the catatonic spectrum. …”
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First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis by Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu

“…In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS (IVS6+1, del G) and the other at the acceptor site of exon 8 (IVS8-1, del GT). …”
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Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish by Linxue Meng, Zhixu Fang, Li Jiang, Yinglan Zheng, Siqi Hong, Yu Deng, Lingling Xie

“…Methods The variant was identified via trio whole-exome sequencing. We constructed wild-type and variant plasmids, transfected them into HEK293T cells and detected the expression levels of the STT3A protein. …”
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Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson

“…Neuropathic histopathology was present in the quadriceps, and exome sequencing revealed the VCP mutation c.290 C>T, p.Gly97Glu. …”
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Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review by Su J, Zeng L, Chen H, Tong J, Chen Y, Huang L, Deng L, Huang Y

“…Through the application of whole-exome sequencing (WES), compound heterozygous COX20 mutations (c.41A>G and c.259C>T) were detected, leading to the confirmation of a diagnosis of mitochondrial complex IV deficiency. …”
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Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia by D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake

“…Four patients of Sri Lankan origin presenting with features suggestive of ataxia telangiectasia were referred to our genetics center for specialized genetic counseling and testing. Whole-exome sequencing followed by Sanger sequencing was used to confirm the candidate variants. …”
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Relationship between CYP2C19 Polymorphism and Clopidogrel Resistance in Patients with Coronary Heart Disease and Ischemic Stroke in China by Rong Chang, Wenqin Zhou, Yi Ye, Xiaofei Zhang, Yanmin Liu, Jinchun Wu

“…Blood was collected and routine items were completed. Whole exome sequencing was performed for CYP2C19 genetic polymorphisms of CYP2C19∗2 (rs4244285), CYP2C19∗3 (rs4986893), and CYP2C19∗17 (rs12248560). …”
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Insulin autoimmune syndrome in a 3-year-old boy: the youngest to date in China and a narrow review by Ming Cheng, Yuan Ding, Dongmei Wang, Chunxiu Gong

“…Initially, he was misdiagnosed with hyperinsulinemic hypoglycemia (HH) due to non-ketotic hypoglycemia. Whole exome sequencing (WES) was negative, and no pancreatic space-occupying lesions were identified. …”
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Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency by Sebastián Gutiérrez-Hincapié, Julio César Orrego, José Luis Franco, Claudia M. Trujillo-Vargas

“…NKG2D expression in natural killer cells was evaluated by flow cytometry. The whole exome sequencing was performed in the patient and his parents. …”
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A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report by Xin Liu, Kaiqing Liu, Lifu Hu, Zixiao Liu, Xinhua Liu, Jiantao Wang

“…Methods: The molecular pathogenesis of a LDS syndrome proband and his family members was analyzed using whole exome sequencing and validated using Sanger sequencing. …”
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A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa by Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY

“…Here, we identified a child who presented with Joubert syndrome exhibiting orofaciodigital spectrum anomalies, polydactyly, and retinitis pigmentosa. Whole exome sequencing and Sanger sequencing revealed a splicing mutation (NM_003611.2, c.2387+1G>A) in the OFD1 gene of the patient and his mother. mRNA sequencing further confirmed this mutation. …”
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A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia by Guoying Chang, Fan Yang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Yao Chen, Yu Ding, Tingting Yu, Ruen Yao, Kana Lin, Juan Li, Xiumin Wang

“…We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty. Whole-exome sequencing identified a novel splice-site variant, NM_001655.5: c.1241 + 1G > A, in the ARCN1 gene. …”
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Case study of a neuroendocrine tumor of uncertain origin: single-cell transcriptomics unravels potential primary location by Frolova Tatyana, Ekaterina Avsievich, Diana Salimgereeva, Zoia Antysheva, Alesia Maluchenko, Denis Maksimov, Ilia Feidorov, Mark Voloshin, Olga Glazova, Natalia Bodunova, Nikolay Karnaukhov, Pavel Volchkov, Julia Krupinova

“…The tumor was subjected to single-cell RNA sequencing (scRNA-seq) and whole exome sequencing (WES). Publicly available transcriptomic datasets from pancreatic and small intestine NETs were used to develop and validate a molecular gene signature for tissue-of-origin identification. …”
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