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CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation. 造血细胞移植后持续呼吸道症状中的 CFAP43 变异。
IF 1
Human Genome Variation Pub Date : 2024-11-22 DOI: 10.1038/s41439-024-00298-5
Shun Nagasawa, Toyoki Nishimura, Ai Yamada, Sachiyo Kamimura, Masataka Ishimura, Hiroshi Moritake
{"title":"CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation.","authors":"Shun Nagasawa, Toyoki Nishimura, Ai Yamada, Sachiyo Kamimura, Masataka Ishimura, Hiroshi Moritake","doi":"10.1038/s41439-024-00298-5","DOIUrl":"10.1038/s41439-024-00298-5","url":null,"abstract":"<p><p>We describe a case of RAS-associated autoimmune leukoproliferative disease with primary ciliary dyskinesia (PCD)-like symptoms, such as recurrent pneumonia, sinusitis, and otitis media, that occurred 7 years after hematopoietic cell transplantation. Whole-exome sequencing revealed a heterozygous CFAP43 nonsense variant. Environmental factors related to hematopoietic cell transplantation may have led to PCD symptoms in this patient with this variant. Genetic screening can help avoid subsequent complications during patient management.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"11 1","pages":"41"},"PeriodicalIF":1.0,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11582709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689122","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 CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication. 一例伴有新型基因内多外显子重复的 CDKL5 缺乏症。
IF 1
Human Genome Variation Pub Date : 2024-11-08 DOI: 10.1038/s41439-024-00296-7
Takato Akiba, Shino Shimada, Katsumi Imai, Satoru Takahashi
{"title":"A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication.","authors":"Takato Akiba, Shino Shimada, Katsumi Imai, Satoru Takahashi","doi":"10.1038/s41439-024-00296-7","DOIUrl":"10.1038/s41439-024-00296-7","url":null,"abstract":"<p><p>We present a case of suspected CDKL5 deficiency disorder (CDD) in which a novel intragenic multi-exonic duplication in the CDKL5 gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This duplication was assumed to result in a shift of the reading frame and the introduction of a premature stop codon. This case highlights the importance of careful phenotyping and comprehensive genetic testing to detect rare structural variants in CDD patients.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"11 1","pages":"40"},"PeriodicalIF":1.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11544015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142604617","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 mild case of Cockayne syndrome with a novel start-loss variant of ERCC8. 一例伴有 ERCC8 新型起始丢失变体的轻度科凯恩综合征病例。
IF 1
Human Genome Variation Pub Date : 2024-11-07 DOI: 10.1038/s41439-024-00297-6
Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu
{"title":"A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.","authors":"Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu","doi":"10.1038/s41439-024-00297-6","DOIUrl":"10.1038/s41439-024-00297-6","url":null,"abstract":"<p><p>Cockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a mild case of CS with a novel start-loss variant in ERCC8 that did not show the characteristic symptoms of CS during early childhood and exhibited sudden growth failure after the age of 10 years.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"11 1","pages":"39"},"PeriodicalIF":1.0,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11544238/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605077","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
Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system. 利用带状细胞遗传学对人类染色体异形进行分类的挑战：从有争议的指南到对通用评分系统的需求。
IF 1
Human Genome Variation Pub Date : 2024-10-24 DOI: 10.1038/s41439-024-00295-8
Sílvia Pires, Paula Jorge, Thomas Liehr, Natália Oliva-Teles
{"title":"Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system.","authors":"Sílvia Pires, Paula Jorge, Thomas Liehr, Natália Oliva-Teles","doi":"10.1038/s41439-024-00295-8","DOIUrl":"https://doi.org/10.1038/s41439-024-00295-8","url":null,"abstract":"<p><p>Chromosomal heteromorphisms (CHs) are morphological variations predominantly found in constitutive heterochromatic regions of the genome, primarily composed of tandemly repetitive sequences of satellite DNA. Although not completely devoid of genes, these regions are typically not transcribed into proteins and lack obvious phenotypic impact. Nonetheless, their clinical importance is increasingly under scrutiny, with several studies aiming to assess their influence on human diseases and susceptibilities, especially as they are seemingly part of the long noncoding RNAs in certain tissues. This article summarizes the classification methods of human heterochromatic CHs documented in the literature over the last two decades. Multiple scoring systems have been identified, and previous approaches for CH assessment and reporting in genetic diagnosis have shown inconsistencies. Owing to the current heterogeneity in the classification of CHs, data analysis may be biased, impacting the quality of clinical reports and human genetic research. This review highlights the need for a universal scoring system, which is essential for scientific reproducibility and the accurate identification and clinical evaluation of human CHs.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"11 1","pages":"38"},"PeriodicalIF":1.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11499882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509745","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
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":"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":"11 1","pages":"37"},"PeriodicalIF":1.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11420239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308714","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 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":"27 1","pages":""},"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":"11 1","pages":"35"},"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":"11 1","pages":"34"},"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":"11 1","pages":"32"},"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":"11 1","pages":"33"},"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
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