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Human Genome Variation最新文献

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Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion. 检测基因拷贝数分布的适应性变化伴随着人类走出非洲的扩张。
IF 1
Human Genome Variation Pub Date : 2024-09-23 DOI: 10.1038/s41439-024-00293-w
Moritz Otto, Yichen Zheng, Paul Grablowitz, Thomas Wiehe
{"title":"Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion.","authors":"Moritz Otto, Yichen Zheng, Paul Grablowitz, Thomas Wiehe","doi":"10.1038/s41439-024-00293-w","DOIUrl":"https://doi.org/10.1038/s41439-024-00293-w","url":null,"abstract":"<p><p>Genes with multiple copies are likely to be maintained by stabilizing selection, which puts a bound to unlimited expansion of copy number. We designed a model in which copy number variation is generated by unequal recombination, which fits well with several genes surveyed in three human populations. Based on this theoretical model and computer simulations, we were interested in determining whether the gene copy number distribution in the derived European and Asian populations can be explained by a purely demographic scenario or whether shifts in the distribution are signatures of adaptation. Although the copy number distribution in most of the analyzed gene clusters can be explained by a bottleneck, such as in the out-of-Africa expansion of Homo sapiens 60-10 kyrs ago, we identified several candidate genes, such as AMY1A and PGA3, whose copy numbers are likely to differ among African, Asian, and European populations.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome 一名疑似林奇综合征患者的新型 MLH1 无义变体
IF 1.5
Human Genome Variation Pub Date : 2024-09-17 DOI: 10.1038/s41439-024-00294-9
Nobue Takaiso, Issei Imoto, Toshihiko Matsumoto, Akiyo Yoshimura
{"title":"Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome","authors":"Nobue Takaiso, Issei Imoto, Toshihiko Matsumoto, Akiyo Yoshimura","doi":"10.1038/s41439-024-00294-9","DOIUrl":"https://doi.org/10.1038/s41439-024-00294-9","url":null,"abstract":"<p>Loss-of-function germline variants of <i>MLH1</i> cause Lynch syndrome. Here, we present the case of a 43-year-old male patient diagnosed with cecal and transverse colon adenocarcinomas. The characteristics of the case met the revised Bethesda guidelines, and the tumors demonstrated a high frequency of microsatellite instability. Genetic testing for mismatch repair genes (indicative of Lynch syndrome) revealed a novel heterozygous germline pathogenic variant, NM_000249.4:c.856A&gt;T/NP_000240.1:p.(Lys286Ter), in <i>MLH1</i>.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142255409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes. 常染色体隐性共济失调患者的基因调查及 SQSTM1 和 SYNE1 基因两种新型变异的鉴定。
IF 1
Human Genome Variation Pub Date : 2024-08-30 DOI: 10.1038/s41439-024-00292-x
Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia
{"title":"Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes.","authors":"Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia","doi":"10.1038/s41439-024-00292-x","DOIUrl":"https://doi.org/10.1038/s41439-024-00292-x","url":null,"abstract":"<p><p>Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance. A large group of adult hereditary ataxias have autosomal dominant inheritance, and autosomal recessive cerebellar ataxias (ARCAs) are rare, with greater diversity in phenotypic and genotypic features. Therefore, comprehensive genetic testing is useful for identifying the genes responsible for ARCAs. We identified two novel pathogenic variants of the SQSTM1 and SYNE1 genes via whole-exome sequencing in patients with ARCAs.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11364807/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113018","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
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy. 威尔逊病（新型 ATP7B 变异）并发 FLNC 相关心肌病。
IF 1
Human Genome Variation Pub Date : 2024-08-29 DOI: 10.1038/s41439-024-00283-y
Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Yoshihisa Yamano
{"title":"Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.","authors":"Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Yoshihisa Yamano","doi":"10.1038/s41439-024-00283-y","DOIUrl":"https://doi.org/10.1038/s41439-024-00283-y","url":null,"abstract":"<p><p>We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p.L1166F) and a known FLNC pathogenic variant. Our results highlight the usefulness of WGS, even in the diagnosis of well-characterized genetic diseases such as WD.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11362149/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113019","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
Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia. 患有先天性关节突眼和翼状胬肉的胎儿中的错义 BICD2 变异。
IF 1
Human Genome Variation Pub Date : 2024-08-26 DOI: 10.1038/s41439-024-00290-z
Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto
{"title":"Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.","authors":"Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto","doi":"10.1038/s41439-024-00290-z","DOIUrl":"10.1038/s41439-024-00290-z","url":null,"abstract":"<p><p>Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de novo heterozygous BICD2 missense variants in two fetuses with severe, prenatally diagnosed multiple arthrogryposis congenita. This report provides further insights into the genetics of this rare disease.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11345410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056752","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 severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant. 一例患有同型 RNASEH2B 内含子变异的重度艾卡迪-古蒂耶尔综合征病例。
IF 1
Human Genome Variation Pub Date : 2024-08-26 DOI: 10.1038/s41439-024-00291-y
Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka
{"title":"A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant.","authors":"Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka","doi":"10.1038/s41439-024-00291-y","DOIUrl":"10.1038/s41439-024-00291-y","url":null,"abstract":"<p><p>We report a case of severe Aicardi-Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5. The patient was born with pseudo-TORCH symptoms, including intracranial calcification, cataracts, and hepatosplenomegaly. Furthermore, the patient exhibited profound intellectual impairment and died at 14 months due to aspiration pneumonia accompanied by interstitial lung abnormalities. The severity of the patient's symptoms underscores the critical role of the C-terminal region of RNase H2B.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11345432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056751","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
Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX. 单亲母系 X 四体综合征与父系非连接共同发生：48,XXXX 的起源调查。
IF 1
Human Genome Variation Pub Date : 2024-08-16 DOI: 10.1038/s41439-024-00289-6
Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto
{"title":"Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.","authors":"Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto","doi":"10.1038/s41439-024-00289-6","DOIUrl":"10.1038/s41439-024-00289-6","url":null,"abstract":"<p><p>Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue. The mechanism of 48,XXYY, which is related to developmental delay in males, was analyzed for comparison.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996617","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 APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis. APOA1 p.Leu202Arg 变异可能导致常染色体隐性遗传性心脏淀粉样变性病。
IF 1
Human Genome Variation Pub Date : 2024-08-16 DOI: 10.1038/s41439-024-00288-7
Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda, Mitsuharu Ueda, Masataka Sata
{"title":"The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.","authors":"Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda, Mitsuharu Ueda, Masataka Sata","doi":"10.1038/s41439-024-00288-7","DOIUrl":"10.1038/s41439-024-00288-7","url":null,"abstract":"<p><p>ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329782/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996616","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
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report. 与新型 MORC2 变异相关的 CMT2Z 和 DIGFAN 之间的中间表型：一份病例报告。
IF 1
Human Genome Variation Pub Date : 2024-08-15 DOI: 10.1038/s41439-024-00287-8
Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi
{"title":"Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.","authors":"Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi","doi":"10.1038/s41439-024-00287-8","DOIUrl":"10.1038/s41439-024-00287-8","url":null,"abstract":"<p><p>Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11324651/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141983449","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
Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency. 研究一名蛋白 S 缺乏症患者的新型 PROS1 剪接变体。
IF 1
Human Genome Variation Pub Date : 2024-07-26 DOI: 10.1038/s41439-024-00286-9
Yo Niida, Wataru Fujita, Sumihito Togi, Hiroki Ura
{"title":"Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency.","authors":"Yo Niida, Wataru Fujita, Sumihito Togi, Hiroki Ura","doi":"10.1038/s41439-024-00286-9","DOIUrl":"10.1038/s41439-024-00286-9","url":null,"abstract":"<p><p>Here, we report a novel PROS1 splicing mutation in a patient with type I protein S deficiency. Qualitative and quantitative analysis of pathogenic splicing variants at the mRNA level was performed by long-range PCR-based targeted DNA and RNA sequencing. A base substitution in the exon 4 splicing donor site activates a potential splicing donor site in intron 4, resulting in an in-frame insertion of 48 bases (16 amino acids).</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11282053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141767526","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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