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Human Genome Variation最新文献

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Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy. 一种新的COL7A1等位变异引起的隐性营养不良大疱性表皮松解症。
IF 1.5
Human Genome Variation Pub Date : 2023-11-20 DOI: 10.1038/s41439-023-00257-6
Yo Niida, Azusa Kobayashi, Sumihito Togi, Hiroki Ura
{"title":"Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy.","authors":"Yo Niida, Azusa Kobayashi, Sumihito Togi, Hiroki Ura","doi":"10.1038/s41439-023-00257-6","DOIUrl":"10.1038/s41439-023-00257-6","url":null,"abstract":"<p><p>Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe blistering, wounds, and scarring. In this report, we present a patient with a novel COL7A1 homozygous nonsense variant, c.793C>T p.(Gln265*). Although the parents were not consanguineous, both were heterozygous carriers of the variant. Single nucleotide polymorphism (SNP) array analysis revealed an isodisomy area on 3p22.1p21.1, encompassing COL7A1, suggesting that the variant originated from a common ancestor.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10661991/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138177493","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
Correction: Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder. 更正:在镫骨强直和神经节谱系障碍患者中发现一种新的无义NOG突变。
IF 1.5
Human Genome Variation Pub Date : 2023-11-15 DOI: 10.1038/s41439-023-00249-6
Toru Sonoyama, Takashi Ishino, Yui Ogawa, Takashi Oda, Sachio Takeno
{"title":"Correction: 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/s41439-023-00249-6","DOIUrl":"10.1038/s41439-023-00249-6","url":null,"abstract":"","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134650116","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 case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay. Marfanoid-Progoid脂肪营养不良综合征一例：跳过外显子和逃避无意义介导的衰变的实验证明。
IF 1.5
Human Genome Variation Pub Date : 2023-10-16 DOI: 10.1038/s41439-023-00255-8
Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Otomo
{"title":"A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.","authors":"Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Otomo","doi":"10.1038/s41439-023-00255-8","DOIUrl":"10.1038/s41439-023-00255-8","url":null,"abstract":"<p><p>We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperextensible finger joints as a case of Marfanoid-progeroid-lipodystrophy syndrome. Genetic investigation revealed a heterozygous variant NC_000015.10(NM_000138.5):c.8226+5G>A in the FBN1 gene. Skipping of exon 65 and escaping nonsense-mediated decay followed by frameshift were experimentally confirmed in the proband's mRNA.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41239417","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 de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report. 一例具有轻度精神运动迟缓和自闭症特征的男性患者PTCH1基因新的典型剪接位点突变：一例报告。
IF 1.5
Human Genome Variation Pub Date : 2023-09-26 DOI: 10.1038/s41439-023-00254-9
Parisa Mashayekhi, Mir Davood Omrani, Seyed Hasan Tonekaboni, Ali Dehghanifard
{"title":"A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report.","authors":"Parisa Mashayekhi, Mir Davood Omrani, Seyed Hasan Tonekaboni, Ali Dehghanifard","doi":"10.1038/s41439-023-00254-9","DOIUrl":"10.1038/s41439-023-00254-9","url":null,"abstract":"<p><p>Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1 with complete penetrance and variable expressivity characterized by a broad spectrum of developmental anomalies and a predisposition to neoplasms. Herein, we report a novel de novo splice site mutation in the PTCH1 gene related to mild developmental delay and autistic traits in a 4-year-old male patient.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41177190","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
Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV. 成骨不完全性XIV型TMEM38B剪接位点新变异。
IF 1.5
Human Genome Variation Pub Date : 2023-09-11 DOI: 10.1038/s41439-023-00252-x
Yoshihiko Kodama, Satoru Meiri, Tomoko Asada, Misayo Matsuyama, Shinya Makino, Minayo Iwai, Masatoshi Yamaguchi, Hiroshi Moritake
{"title":"Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV.","authors":"Yoshihiko Kodama, Satoru Meiri, Tomoko Asada, Misayo Matsuyama, Shinya Makino, Minayo Iwai, Masatoshi Yamaguchi, Hiroshi Moritake","doi":"10.1038/s41439-023-00252-x","DOIUrl":"10.1038/s41439-023-00252-x","url":null,"abstract":"<p><p>Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones. In this case report, we describe a patient who suffered from OI type XIV with a novel splice site variant in the TMEM38B gene. Further research is needed to better understand the relationship between the phenotype of OI type XIV and this variant.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495319/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10231539","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
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia. 新生儿严重扩张型心肌病和相对轻度张力减退的新型SPEG变异。
IF 1.5
Human Genome Variation Pub Date : 2023-09-06 DOI: 10.1038/s41439-023-00253-w
Hana Milena Fujimoto, Masanori Fujimoto, Takahiro Sugiura, Shigeharu Nakane, Yasuhiro Wakano, Emi Sato, Hironori Oshita, Yasuko Togawa, Mari Sugimoto, Takenori Kato, Kazushi Yasuda, Kanji Muramatsu, Shinji Saitoh
{"title":"Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.","authors":"Hana Milena Fujimoto, Masanori Fujimoto, Takahiro Sugiura, Shigeharu Nakane, Yasuhiro Wakano, Emi Sato, Hironori Oshita, Yasuko Togawa, Mari Sugimoto, Takenori Kato, Kazushi Yasuda, Kanji Muramatsu, Shinji Saitoh","doi":"10.1038/s41439-023-00253-w","DOIUrl":"10.1038/s41439-023-00253-w","url":null,"abstract":"<p><p>Striated muscle preferentially expressed protein kinase (SPEG) variants have been reported to cause centronuclear myopathy associated with cardiac diseases. The severity of skeletal muscle symptoms and cardiac symptoms are presumably related to the location of the variant. Here, we report novel SPEG compound heterozygous pathological variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia. This report expands the genotype-phenotype correlations of patients with SPEG variants.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10482934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10185992","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
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants. 新型HIBCH变异引起的leigh样综合征伴进行性小脑萎缩。
IF 1.5
Human Genome Variation Pub Date : 2023-08-22 DOI: 10.1038/s41439-023-00251-y
Yoshihiro Taura, Takenori Tozawa, Kenichi Isoda, Satori Hirai, Tomohiro Chiyonobu, Naoko Yano, Takahiro Hayashi, Takeshi Yoshida, Tomoko Iehara
{"title":"Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.","authors":"Yoshihiro Taura, Takenori Tozawa, Kenichi Isoda, Satori Hirai, Tomohiro Chiyonobu, Naoko Yano, Takahiro Hayashi, Takeshi Yoshida, Tomoko Iehara","doi":"10.1038/s41439-023-00251-y","DOIUrl":"10.1038/s41439-023-00251-y","url":null,"abstract":"<p><p>Pathogenic variants in the HIBCH gene cause HIBCH deficiency, leading to mitochondrial disorders associated with valine metabolism. Patients typically present with symptoms such as developmental regression/delay, encephalopathy, hypotonia and dystonia. Brain magnetic resonance imaging (MRI) shows bilateral lesions in the basal ganglia with/without brainstem involvement. Here, we report a case of a Japanese patient with Leigh-like syndrome caused by novel HIBCH variants. Long-term follow-up MRI revealed progressive cerebellar atrophy, which expands the phenotypic spectrum of HIBCH deficiency.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10432859","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
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
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