Human Genome Variation最新文献_第10页

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts. 包含CRYBB2-CRYBB2P1的基因组缺失是常染色体隐性遗传性先天性白内障的原因。

IF 1.5

Human Genome Variation Pub Date : 2022-09-08 DOI: 10.1038/s41439-022-00208-7

Bushra Irum, Firoz Kabir, Nadav Shoshany, Shahid Y Khan, Bushra Rauf, Muhammad Asif Naeem, Tanveer A Qaiser, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

引用次数: 0

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report. 一种新的COL4A5剪接变异导致x连锁Alport综合征:1例报告。

IF 1.5

Human Genome Variation Pub Date : 2022-08-31 DOI: 10.1038/s41439-022-00209-6

Naonori Kumagai, Yuji Matsumoto, Tomomi Kondoh, Yohei Ikezumi

引用次数: 0

A Japanese family with dystonia due to a pathogenic variant in SGCE. 一个日本家族因SGCE致病性变异而出现肌张力障碍。

IF 1.5

Human Genome Variation Pub Date : 2022-08-22 DOI: 10.1038/s41439-022-00207-8

Takuya Morikawa, Shiroh Miura, Luoming Fan, Emina Watanabe, Ryuta Fujioka, Hiromichi Motooka, Shingo Yasumoto, Yusuke Uchiyama, Hiroki Shibata

引用次数: 0

Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population. 一名日本患者的致心律失常性右心室心肌病与东亚人群中 DSG2 的同源基因变异有关。

IF 1

Human Genome Variation Pub Date : 2022-08-08 DOI: 10.1038/s41439-022-00206-9

Haruka Murakami, Yoko Tanimoto, Kojiro Tanimoto, Satomi Inoue, Taisuke Ishikawa, Naomasa Makita, Kazuki Yamazawa

引用次数: 0

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia. 常染色体显性小脑性共济失调的杂合性GRID2突变。

IF 1.5

Human Genome Variation Pub Date : 2022-07-27 DOI: 10.1038/s41439-022-00204-x

Kishin Koh, Haruo Shimazaki, Matsuo Ogawa, Yoshihisa Takiyama

引用次数: 1

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. ARID1B中一种新的无义变异引起同时的RNA衰变和外显子跳变与Coffin-Siris综合征有关。

IF 1.5

Human Genome Variation Pub Date : 2022-07-25 DOI: 10.1038/s41439-022-00203-y

Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Takahito Moriwaki, Rina Iwata, Seigo Terawaki, Yasuko Yamanouchi, Takanobu Otomo

{"title":"A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.","authors":"Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Takahito Moriwaki, Rina Iwata, Seigo Terawaki, Yasuko Yamanouchi, Takanobu Otomo","doi":"10.1038/s41439-022-00203-y","DOIUrl":"https://doi.org/10.1038/s41439-022-00203-y","url":null,"abstract":"Coffin-Siris syndrome (CSS) is a congenital disorder that is characterized by an absent/hypoplastic fifth distal phalanx, psychomotor developmental delay, and coarse facial features. One of the causative genes, ARID1B (AT-rich interactive domain-containing protein 1B), encodes components of the BAF chromatin remodeling complexes. Here, we report a case of a 3-year 8-month-old male with a novel nonsense variant (NM_001374820.1:c.4282C > T, p.(Gln1428*)) in the ARID1B gene, which was identified with whole-exome sequencing. He showed clinical symptoms of cleft soft palate, distinctive facial features (flat nasal bridge, thick eyebrows, and long eyelashes), right cryptorchidism, and hypertrichosis that partially overlapped with CSS. One of the most characteristic features of CSS is absent/hypoplastic fifth distal phalanx. He showed no obvious clinical finding in the lengths of his fingers or in the formation of his fingernails. However, radiographic analyses of the metacarpophalangeal bones revealed shortening of all the distal phalanges and fifth middle phalanges, suggesting brachydactyly. We performed mRNA analyses and revealed that both nonsense-mediated decay and nonsense-associated altered splicing were simultaneously caused by the c.4282C > T nonsense variant. The proband's clinical manifestations fit the previously reported criteria of disease for CSS or intellectual disability with ARID1B variant. Altogether, we suggest that c.4282C > T is a pathogenic variant that causes this clinical phenotype.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10566851","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: 1

Succinate dehydrogenase B-deficient renal cell carcinoma with a germline variant in a Japanese patient: a case report. 琥珀酸脱氢酶b缺乏性肾细胞癌伴种系变异一例日本患者:病例报告。

IF 1.5

Human Genome Variation Pub Date : 2022-07-22 DOI: 10.1038/s41439-022-00202-z

Shinichiro Higashi, Takeshi Sasaki, Katsunori Uchida, Takumi Kageyama, Makoto Ikejiri, Ryuki Matsumoto, Manabu Kato, Satoru Masui, Yuko Yoshio, Kouhei Nishikawa, Yoshinaga Okugawa, Masatoshi Watanabe, Takahiro Inoue

{"title":"Succinate dehydrogenase B-deficient renal cell carcinoma with a germline variant in a Japanese patient: a case report.","authors":"Shinichiro Higashi, Takeshi Sasaki, Katsunori Uchida, Takumi Kageyama, Makoto Ikejiri, Ryuki Matsumoto, Manabu Kato, Satoru Masui, Yuko Yoshio, Kouhei Nishikawa, Yoshinaga Okugawa, Masatoshi Watanabe, Takahiro Inoue","doi":"10.1038/s41439-022-00202-z","DOIUrl":"https://doi.org/10.1038/s41439-022-00202-z","url":null,"abstract":"Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare renal cancer. A 75-year-old Japanese female presented with gross hematuria. Computed tomography revealed two tumors in the left kidney, which were resected. Immunohistochemistry indicated negative staining for the B subunit of SDH (SDHB) in the resected specimen, leading to a final diagnosis of SDHB-deficient RCC. Genetic testing for SDHB showed a RCC germline variant in exon 6 (NM_003000.3:c.642 G > C) that was previously reported but associated with a novel phenotype (i.e., RCC). Twenty-six years prior, her daughter, who was 25 years old at the time, had undergone radical nephrectomy for a pathologic diagnosis of renal oncocytoma of the right kidney; SDHB immunostaining of her daughter's tumor was also negative retrospectively. We confirmed that her daughter carried the germline variant in SDHB exon 6, similar to the patient. The patient had no evidence of disease progression at 15 months after surgery.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9307839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10490084","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 COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts. 新生儿多发颅内出血和先天性白内障的COL4A1变异。

IF 1.5

Human Genome Variation Pub Date : 2022-06-10 DOI: 10.1038/s41439-022-00199-5

Ayane Yakabe, Tamaki Ikuse, Natsuki Ito, Hiromichi Yamada, Nobutomo Saito, Yuri Kitamura, Tomohiro Iwasaki, Mitsuru Ikeno, Hiroki Suganuma, Shinpei Abe, Nao Miyazaki, Ken Hisata, Hiromichi Shoji, Tomoyuki Nakazawa, Hidetaka Eguchi, Toshiaki Shimizu

引用次数: 0

Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3. 辛普森-戈拉比-贝梅尔综合征伴包括GPC3在内的240kb从头缺失的性早熟病例。

IF 1.5

Human Genome Variation Pub Date : 2022-06-09 DOI: 10.1038/s41439-022-00196-8

Keisuke Watanabe, Atsuko Noguchi, Ikuko Takahashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Tsutomu Takahashi

引用次数: 0

Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family. 更正:一个越南家庭中罕见的COL7A1纯合错义突变。

IF 1.5

Human Genome Variation Pub Date : 2022-06-06 DOI: 10.1038/s41439-022-00201-0

Nguyen Thuy Duong,Luong Thi Lan Anh,Nguyen Huu Sau,Nguyen Bao Anh,Noriko Miyake,Nong Van Hai,Naomichi Matsumoto

引用次数: 0