Human Genome Variation最新文献_第2页

Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing. 无法分类的短肋胸发育不良诊断使用靶向基因面板测序。

IF 1

Human Genome Variation Pub Date : 2024-12-03 DOI: 10.1038/s41439-024-00302-y

Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita

引用次数: 0

Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease. Tay-Sachs病患者胃造口和喉气管分离的同时手术治疗。

IF 1

Human Genome Variation Pub Date : 2024-11-29 DOI: 10.1038/s41439-024-00300-0

Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai

引用次数: 0

Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study. 日本 1 型神经纤维瘤病患者的基因型和表型：遗传性肿瘤队列研究》。

IF 1

Human Genome Variation Pub Date : 2024-11-26 DOI: 10.1038/s41439-024-00299-4

Mashu Futagawa, Tetsuya Okazaki, Eiji Nakata, Chika Fukano, Risa Osumi, Fumino Kato, Yusaku Urakawa, Hideki Yamamoto, Toshifumi Ozaki, Akira Hirasawa

{"title":"Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study.","authors":"Mashu Futagawa, Tetsuya Okazaki, Eiji Nakata, Chika Fukano, Risa Osumi, Fumino Kato, Yusaku Urakawa, Hideki Yamamoto, Toshifumi Ozaki, Akira Hirasawa","doi":"10.1038/s41439-024-00299-4","DOIUrl":"10.1038/s41439-024-00299-4","url":null,"abstract":"Neurofibromatosis type 1 (NF1) presents with a broad spectrum of clinical manifestations, including an increased risk of tumor development and hypertension. Comprehensive data on genotype‒phenotype correlations in patients with NF1 are limited. Therefore, in this study, we aimed to elucidate the detailed genetic and clinical characteristics of NF1 in a hereditary tumor cohort. We performed sequencing and copy number assays in a clinical laboratory and analyzed the clinical data of 44 patients with suspected NF1. Germline pathogenic variants were detected in 36 patients (81.8%), and 20.7% of the variants were novel. Notably, 40.0% of adult patients presented with malignancies; female breast cancer occurred in 20.0% of patients, which was a higher rate than that previously reported. Hypertension was observed in 30.6% of the adult patients, with one patient experiencing sudden death and another developing pheochromocytoma. Three patients with large deletions in NF1 exhibited prominent cutaneous, skeletal, and neurological manifestations. These results highlight the importance of regular surveillance, particularly for patients with malignancies and hypertension. Our findings provide valuable insights for genetic counseling and clinical management, highlighting the multiple health risks associated with NF1 and the need for comprehensive and multidisciplinary care.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"11 1","pages":"42"},"PeriodicalIF":1.0,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11599849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142733290","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

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

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

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

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":"10.1038/s41439-024-00295-8","url":null,"abstract":"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.","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

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

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

引用次数: 0