{"title":"Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.","authors":"Haruka Murakami, Yoko Tanimoto, Kojiro Tanimoto, Satomi Inoue, Taisuke Ishikawa, Naomasa Makita, Kazuki Yamazawa","doi":"10.1038/s41439-022-00206-9","DOIUrl":"10.1038/s41439-022-00206-9","url":null,"abstract":"<p><p>Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a Japanese patient with ARVC whose parents were blood relatives. Genetic testing identified a homozygous rare variant, c.1592T > G (p.Phe531Cys), of DSG2 that is presumed to be a founder variant among East Asians. Genetic counseling sessions with precise risk assessment and appropriate follow-up programs were provided to the patient and family members.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9073793","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}
Kishin Koh, Haruo Shimazaki, Matsuo Ogawa, Yoshihisa Takiyama
{"title":"A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.","authors":"Kishin Koh, Haruo Shimazaki, Matsuo Ogawa, Yoshihisa Takiyama","doi":"10.1038/s41439-022-00204-x","DOIUrl":"https://doi.org/10.1038/s41439-022-00204-x","url":null,"abstract":"<p><p>A heterozygous mutation in GRID2 that causes SCAR18 was first reported in an Algerian family with autosomal dominant cerebellar ataxia (ADCA). We identified the second ADCA family with a heterozygous GRID2 mutation. The Algerian family had cognitive impairment and hearing loss associated with cerebellar ataxia. However, the Japanese family presented here showed pure cerebellar ataxia. Therefore, we should also screen for the GRID2 mutation in ADCA families with pure cerebellar ataxia.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10510821","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}
{"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":"<p><p>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.</p>","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}
{"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":"<p><p>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.</p>","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}
{"title":"A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts.","authors":"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","doi":"10.1038/s41439-022-00199-5","DOIUrl":"https://doi.org/10.1038/s41439-022-00199-5","url":null,"abstract":"<p><p>A 2-day-old neonate presented with seizures, multiple intracranial hemorrhages, and bilateral congenital cataracts. Targeted next-generation sequencing of the collagen type IV alpha 1 chain (COL4A1) gene revealed a heterozygous de novo missense variant (NM_001845.6:c.2291G>A/p.Gly764Asp). This missense variant adds to the compendium of COL4A1 variants and is associated with a COL4A1-related disorder.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9187765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10566836","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}
{"title":"Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.","authors":"Keisuke Watanabe, Atsuko Noguchi, Ikuko Takahashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Tsutomu Takahashi","doi":"10.1038/s41439-022-00196-8","DOIUrl":"https://doi.org/10.1038/s41439-022-00196-8","url":null,"abstract":"<p><p>Here, we report a Japanese patient with Simpson-Golabi-Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented with precocious puberty, mostly evaluated as advanced pubertal age of 15 years at the chronological age of 11.5 years.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10860510","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}
Nguyen Thuy Duong,Luong Thi Lan Anh,Nguyen Huu Sau,Nguyen Bao Anh,Noriko Miyake,Nong Van Hai,Naomichi Matsumoto
{"title":"Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family.","authors":"Nguyen Thuy Duong,Luong Thi Lan Anh,Nguyen Huu Sau,Nguyen Bao Anh,Noriko Miyake,Nong Van Hai,Naomichi Matsumoto","doi":"10.1038/s41439-022-00201-0","DOIUrl":"https://doi.org/10.1038/s41439-022-00201-0","url":null,"abstract":"","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138531426","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}
Nguyen Thuy Duong, Nguyen Phuong Anh, Nguyen Duy Bac, Le Bach Quang, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto
{"title":"Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome.","authors":"Nguyen Thuy Duong, Nguyen Phuong Anh, Nguyen Duy Bac, Le Bach Quang, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto","doi":"10.1038/s41439-022-00200-1","DOIUrl":"https://doi.org/10.1038/s41439-022-00200-1","url":null,"abstract":"<p><p>We describe a case of Cockayne syndrome without photosensitivity in a Vietnamese family. This lack of photosensitivity prevented the establishment of a confirmed medical clinical diagnosis for 16 years. Whole-exome sequencing (WES) identified a novel missense variant combined with a known nonsense variant in the ERCC6 gene, NM_000124.4: c.[2839C>T;2936A>G], p.[R947*;K979R]. This case emphasizes the importance of WES in investigating the etiology of a disease when patients do not present the complete clinical phenotypes of Cockayne syndrome.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10503271","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}
{"title":"Online tools for efficient paper writing.","authors":"Yasunori Yamamoto, Toyofumi Fujiwara","doi":"10.1038/s41439-022-00195-9","DOIUrl":"https://doi.org/10.1038/s41439-022-00195-9","url":null,"abstract":"<p><p>For researchers, writing a paper is an essential task, and it is crucial for them to have an environment to facilitate the paper writing process. In addition, writing in English is more difficult for many non-native English speakers. The Database Center for Life Science (DBCLS) provides researchers in the life sciences with several text-mining related services, such as Allie and inMeXes, which were developed to facilitate paper writing. Allie is an abbreviation database that shows researchers expanded forms and several relevant data, such as the papers that contain the abbreviations and their corresponding expanded forms. Since a large amount of abbreviations are coined, remembering their meanings is difficult, even in one's research field. Therefore, Allie helps one lookup abbreviations. inMeXes is an incremental search service for English phrases appearing in PubMed. Researchers can learn English phrases used in life science papers, such as the use of prepositions or widely used phrases that contain a specific word. Allie and inMeXes are updated monthly and yearly, respectively, to provide the latest information.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10503272","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}
{"title":"Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.","authors":"Jun Mori, Tatsuji Hasegawa, Yosuke Miyamoto, Kazumasa Kitamura, Hidechika Morimoto, Takenori Tozawa, Ritsuko Kimata Pooh, Tomohiro Chiyonobu","doi":"10.1038/s41439-022-00197-7","DOIUrl":"https://doi.org/10.1038/s41439-022-00197-7","url":null,"abstract":"<p><p>The molecular mechanisms involved in thyroid organogenesis have not been fully elucidated. We report a patient with a de novo germline AKT3 variant, NM_005465.7:c.233A > G, p.(Gln78Arg), who presented with congenital hypothyroidism in addition to typical AKT3-related brain disorders. The report of this patient contributes to delineating the associated yet uncertain endocrine complications of this AKT3 disease-causing variant.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9166760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10498078","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}