Human Genome Variation最新文献_第7页

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus. HCN1 p.Ser399Pro变体会导致癫痫性脑病和超难治性癫痫状态。

IF 1.5

Human Genome Variation Pub Date : 2023-06-23 DOI: 10.1038/s41439-023-00247-8

Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto

引用次数: 0

Genome-wide association study of preterm birth and gestational age in a Japanese population. 日本人群早产与胎龄的全基因组关联研究。

IF 1.5

Human Genome Variation Pub Date : 2023-06-13 DOI: 10.1038/s41439-023-00246-9

Keita Hasegawa, Natsuhiko Kumasaka, Kazuhiko Nakabayashi, Hiromi Kamura, Kayoko Maehara, Yoshifumi Kasuga, Kenichiro Hata, Mamoru Tanaka

引用次数: 0

Oculofaciocardiodental syndrome caused by a novel BCOR variant. 由一种新型 BCOR 变异体引起的眼心血管综合征。

IF 1.5

Human Genome Variation Pub Date : 2023-06-12 DOI: 10.1038/s41439-023-00244-x

Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, Eri Sakai, Chie Ono, Haruka Bamba, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Yorifuji, Takashi Hamazaki, Toshiyuki Seto

引用次数: 0

A novel HECW2 variant in an infant with congenital long QT syndrome. 一名患有先天性长 QT 综合征的婴儿体内的新型 HECW2 变体

IF 1.5

Human Genome Variation Pub Date : 2023-06-06 DOI: 10.1038/s41439-023-00245-w

Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi

引用次数: 0

A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family. 巴基斯坦一个家族中导致手足畸形的 UBA2 新型框架移位变体

IF 1.5

Human Genome Variation Pub Date : 2023-05-23 DOI: 10.1038/s41439-023-00242-z

Asia Parveen, Muhammad Tariq, Sher Alam Khan, Naseebullah Kakar, Amina Arif, Naveed Wasif

引用次数: 0

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform. 基于 BGISEQ-500 平台的单核苷酸和染色体水平遗传疾病临床诊断。

IF 1.5

Human Genome Variation Pub Date : 2023-05-22 DOI: 10.1038/s41439-023-00238-9

Yanqiu Liu, Liangwei Mao, Hui Huang, Wei Li, Jianfen Man, Wenqian Zhang, Lina Wang, Long Li, Yan Sun, Teng Zhai, Xueqin Guo, Lique Du, Jin Huang, Hao Li, Yang Wan, Xiaoming Wei

{"title":"Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.","authors":"Yanqiu Liu, Liangwei Mao, Hui Huang, Wei Li, Jianfen Man, Wenqian Zhang, Lina Wang, Long Li, Yan Sun, Teng Zhai, Xueqin Guo, Lique Du, Jin Huang, Hao Li, Yang Wan, Xiaoming Wei","doi":"10.1038/s41439-023-00238-9","DOIUrl":"10.1038/s41439-023-00238-9","url":null,"abstract":"Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number variation (CNV). Many human diseases including genetic disorders are associated with variations in the genome. These disorders are often difficult to be diagnosed because of their complex clinical conditions, therefore, an effective detection method is needed to facilitate clinical diagnosis and prevent birth defects. With the development of high-throughput sequencing technology, the method of targeted sequence capture chip has been extensively used owing to its high throughput, high accuracy, fast speed, and low cost. In this study, we designed a chip that potentially captured the coding region of 3043 genes associated with 4013 monogenic diseases, with an addition of 148 chromosomal abnormalities that can be identified by targeting specific regions. To assess the efficiency, a strategy of combining the BGISEQ500 sequencing platform with the designed chip was utilized to screen variants in 63 patients. Eventually, 67 disease-associated variants were found, 31 of which were novel. The results of the evaluation test also show that this combined strategy complies with the requirements of clinical testing and has proper clinical application value.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"10 1","pages":"15"},"PeriodicalIF":1.5,"publicationDate":"2023-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10203365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9870481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran. 伊朗一例新型 HbG-Coushatta 复合杂合型β地中海贫血症病例报告。

IF 1.5

Human Genome Variation Pub Date : 2023-05-15 DOI: 10.1038/s41439-023-00243-y

Narges Soozangar, Ehsan Abbaspour, Haleh Mokaber, Zahra Nematollahi, Behzad Davarnia

引用次数: 0

Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder. 鉴定一种新的无义NOG突变患者与镫骨强直和神经节谱系障碍。

IF 1.5

Human Genome Variation Pub Date : 2023-04-13 DOI: 10.1038/s41439-023-00236-x

Toru Sonoyama, Takashi Ishino, Yui Ogawa, Takashi Oda, Sachio Takeno

引用次数: 0

A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene. 从一名患有发烧引发的反复急性肝功能衰竭的婴儿身上发现的 NBAS 基因新型变体破坏了该基因的功能。

IF 1.5

Human Genome Variation Pub Date : 2023-04-13 DOI: 10.1038/s41439-023-00241-0

Juhua Ji, Mingming Yang, JunJun Jia, Qi Wu, Ruochen Cong, Hengxiang Cui, Baofeng Zhu, Xin Chu

{"title":"A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene.","authors":"Juhua Ji, Mingming Yang, JunJun Jia, Qi Wu, Ruochen Cong, Hengxiang Cui, Baofeng Zhu, Xin Chu","doi":"10.1038/s41439-023-00241-0","DOIUrl":"10.1038/s41439-023-00241-0","url":null,"abstract":"Mutations in the neuroblastoma amplified sequence (NBAS) gene correlate with infantile acute liver failure (ALF). Herein, we identified a novel NBAS mutation in a female infant diagnosed with recurrent ALF. Whole-exome and Sanger sequencing revealed that the proband carried a compound heterozygous mutation (c.938_939delGC and c.1342 T > C in NBAS). NBAS c.938_939delGC was presumed to encode a truncated protein without normal function, whereas NBAS c.1342 T > C encoded NBAS harboring the conserved Cys448 residue mutated to Arg448 (p.C448R). The proportion of CD4 + T cells decreased in the patient's peripheral CD45 + cells, whereas that of CD8 + T cells increased. Moreover, upon transfecting the same amount of DNA expression vector (ectopic expression) encoding wild-type NBAS and p.C448R NBAS, the group transfected with the p.C448R NBAS-expressing vector expressed less NBAS mRNA and protein. Furthermore, ectopic expression of the same amount of p.C448R NBAS protein as the wild-type resulted in more intracellular reactive oxygen species and the induction of apoptosis and expression of marker proteins correlating with endoplasmic reticulum stress in more cultured cells. This study indicated that p.C448R NBAS has a function different from that of wild-type NBAS and that the p.C448R NBAS mutation potentially affects T-cell function and correlates with ALF.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"10 1","pages":"13"},"PeriodicalIF":1.5,"publicationDate":"2023-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10102179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9314776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan. 日本公众对云计算的态度以及为医疗保健研究共享个人健康记录（PHR）和基因组数据的意愿。

IF 1.5

Human Genome Variation Pub Date : 2023-03-30 DOI: 10.1038/s41439-023-00240-1

Mayumi Kusunose, Kaori Muto

{"title":"Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan.","authors":"Mayumi Kusunose, Kaori Muto","doi":"10.1038/s41439-023-00240-1","DOIUrl":"10.1038/s41439-023-00240-1","url":null,"abstract":"Japan's government aims to promote the linkage of medical records, including medical genomic testing data and personal health records (PHRs), via cloud computing (the cloud). However, linking national medical records and using them for health care research can be controversial. Additionally, many ethical issues with using cloud networks with health care and genome data have been noted. However, no research has yet explored the Japanese public's opinions about their PHRs, including genome data, being shared for health care research or the use of the cloud for storing and analyzing such data. Therefore, we conducted a survey in March 2021 to clarify the public's attitudes toward sharing their PHRs, including genome data and using the cloud for health care research. We analyzed data to experimentally create digital health basic literacy scores (BLSs). Our results showed that the Japanese public had concerns about data sharing that overlapped with structural cloud computing issues. The effect of incentives on changes in participants' willingness to share data (WTSD) was limited. Instead, there could be a correlation between WTSD and BLSs. Finally, we argue that it is vital to consider not only researchers but also research participants as value cocreators in health care research conducted through the cloud to overcome both parties' vulnerability.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"10 1","pages":"11"},"PeriodicalIF":1.5,"publicationDate":"2023-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9229472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0