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Human Genome Variation最新文献

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Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features. 发育性癫痫性脑病患者1号染色体父本单系同工二体的双等位基因KCTD3无义变异和显著特征。
IF 1.5
Human Genome Variation Pub Date : 2023-08-07 DOI: 10.1038/s41439-023-00250-z
Keiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto
{"title":"Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.","authors":"Keiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto","doi":"10.1038/s41439-023-00250-z","DOIUrl":"10.1038/s41439-023-00250-z","url":null,"abstract":"<p><p>A biallelic nonsense variant of the potassium channel tetramerization domain-containing protein 3 gene (KCTD3) [c.1192C>T; p.R398*] was identified in a patient with developmental epileptic encephalopathy with distinctive features and brain structural abnormalities. The patient showed isodisomy of chromosome 1, where KCTD3 is located, and the father was heterozygous for the same variant. Based on these findings, paternal uniparental disomy was considered to cause the biallelic involvement of KCTD3.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9967640","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
X-linked intellectual disability related to a novel variant of KLHL15. 与 KLHL15 新型变体有关的 X 连锁智力残疾。
IF 1.5
Human Genome Variation Pub Date : 2023-07-14 DOI: 10.1038/s41439-023-00248-7
Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
{"title":"X-linked intellectual disability related to a novel variant of KLHL15.","authors":"Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura","doi":"10.1038/s41439-023-00248-7","DOIUrl":"10.1038/s41439-023-00248-7","url":null,"abstract":"<p><p>Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with impaired intelligence, short stature, frequent hypoglycemia, and periodic fever. Patients with nonsense variants in KLHL15 may develop intellectual disabilities, minor skeletal anomalies, and facial dysmorphisms.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9878819","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
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
{"title":"The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.","authors":"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","doi":"10.1038/s41439-023-00247-8","DOIUrl":"10.1038/s41439-023-00247-8","url":null,"abstract":"<p><p>HCN1 is one of four genes encoding hyperpolarization-activated cyclic nucleotide-gated channels. The phenotypic spectrum associated with HCN1 variants ranges from neonatal developmental and epileptic encephalopathy to idiopathic generalized epilepsy. We report a Japanese patient with repetitive focal seizures and super-refractory status epilepticus since early infancy caused by a de novo HCN1 variant, NM_021072.4, c.1195T>C, p.(Ser399Pro). This variant might have a dominant-negative effect on channel function, leading to severe epileptic encephalopathy.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290089/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9716188","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
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
{"title":"Genome-wide association study of preterm birth and gestational age in a Japanese population.","authors":"Keita Hasegawa, Natsuhiko Kumasaka, Kazuhiko Nakabayashi, Hiromi Kamura, Kayoko Maehara, Yoshifumi Kasuga, Kenichiro Hata, Mamoru Tanaka","doi":"10.1038/s41439-023-00246-9","DOIUrl":"10.1038/s41439-023-00246-9","url":null,"abstract":"<p><p>Preterm birth (PTB), defined as the birth of a baby at <37 weeks of gestation, is known to be the main cause of neonatal morbidity and mortality. Here, we report genetic associations between preterm birth and gestational age in a Japanese population. We conducted a genome-wide association study (GWAS) of 384 cases who delivered prematurely and 644 controls and considered gestational age as a quantitative trait in 1028 Japanese women. Unfortunately, we were unable to identify any significant variants associated with PTB or gestational age using the current sample. We also examined genetic associations previously reported in European populations and identified no associations, even with the genome-wide subthreshold (p value < 10<sup>-6</sup>). This data report aims to provide summary statistics of current GWASs on PTB in a Japanese population for future meta-analyses of genetics and PTB with larger sample sizes.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10264385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9692442","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
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
{"title":"Oculofaciocardiodental syndrome caused by a novel BCOR variant.","authors":"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","doi":"10.1038/s41439-023-00244-x","DOIUrl":"10.1038/s41439-023-00244-x","url":null,"abstract":"<p><p>Oculofaciocardiodental syndrome is caused by variants in the BCL6 corepressor (BCOR) gene. We identified a novel heterozygous frameshift variant, NM_001123385.2(BCOR):c.2326del, that arose de novo in a Japanese girl with characteristic facial features, congenital heart disease, bilateral syndactyly of toes 2 and 3, congenital cataracts, dental abnormalities, and mild intellectual disability. Reports of BCOR variants are rare, and further case accumulation is warranted.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10261115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9638053","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 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
{"title":"A novel HECW2 variant in an infant with congenital long QT syndrome.","authors":"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","doi":"10.1038/s41439-023-00245-w","DOIUrl":"10.1038/s41439-023-00245-w","url":null,"abstract":"<p><p>Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidities. The patient presented with fetal tachyarrhythmia and hydrops and was postnatally diagnosed with long QT syndrome. This study provides evidence that HECW2 pathogenic variants can cause long QT syndrome along with neurodevelopmental disorders.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10244414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9590375","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 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
{"title":"A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.","authors":"Asia Parveen, Muhammad Tariq, Sher Alam Khan, Naseebullah Kakar, Amina Arif, Naveed Wasif","doi":"10.1038/s41439-023-00242-z","DOIUrl":"10.1038/s41439-023-00242-z","url":null,"abstract":"<p><p>Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by Sanger sequencing identified a novel single nucleotide heterozygous variant (NC_000019.9 (NM_005499.3):c.1118del) in UBA2 cosegregating in the family in an autosomal dominant manner. Our findings conclude that reduced penetrance and variable expressivity are the two remarkable and unusual features of SHFM.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10206101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9574116","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
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":"<p><p>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.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"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
{"title":"A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran.","authors":"Narges Soozangar, Ehsan Abbaspour, Haleh Mokaber, Zahra Nematollahi, Behzad Davarnia","doi":"10.1038/s41439-023-00243-y","DOIUrl":"10.1038/s41439-023-00243-y","url":null,"abstract":"<p><p>A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassemia in our affected proband. Therefore, beta globin chain sequencing of proband discovered a heterozygote combination of the Hb G-Coushatta [b22 (B4) Glu>Ala, HBB: c.68A>C) with HBB: IVS-II-1 (G>A) mutation as a compound heterozygote.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10185494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9486640","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
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
{"title":"Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder.","authors":"Toru Sonoyama, Takashi Ishino, Yui Ogawa, Takashi Oda, Sachio Takeno","doi":"10.1038/s41439-023-00236-x","DOIUrl":"10.1038/s41439-023-00236-x","url":null,"abstract":"<p><p>Multiple bone disorders due to mutations in the human noggin (NOG) causes a variety of phenotypes. Hearing impairment due to stapes ankylosis secondary to bony degeneration is also a feature of these syndromes. We describe the case of an individual in a Japanese family with conductive hearing loss due to stapes ankylosis and hyperopia and dactylosymphysis. We revealed a novel NOG mutation, NM_005450.6:c.222 C > A / p.Tyr74*, and confirmed genetic significance.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10097708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9300473","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
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