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Population frequencies of thiopurine-related pharmacogenes in healthy individuals from Kosovo. 科索沃健康人群中硫嘌呤相关药物原基因的人群频率
IF 1.3
Human Genome Variation Pub Date : 2026-02-27 DOI: 10.1038/s41439-026-00337-3
Flaka Pasha, Dunja Urbančič, Gordana Gosheva, Bukurije Zhubi, Safete Maliqi Qormemeti, Shaip Krasniqi, Irena Mlinarič-Raščan
{"title":"Population frequencies of thiopurine-related pharmacogenes in healthy individuals from Kosovo.","authors":"Flaka Pasha, Dunja Urbančič, Gordana Gosheva, Bukurije Zhubi, Safete Maliqi Qormemeti, Shaip Krasniqi, Irena Mlinarič-Raščan","doi":"10.1038/s41439-026-00337-3","DOIUrl":"10.1038/s41439-026-00337-3","url":null,"abstract":"<p><p>Personalized thiopurine therapy is among the most established examples of pharmacogenomics translated into clinical practice. Variants in TPMT (rs1800462, rs1800460, rs1142345) and NUDT15 (rs116855232) are recognized clinical predictors of thiopurine efficacy and toxicity. Additional variants in genes such as PACSIN2 (rs2413739), ITPA (rs1127354) and MTHFR (rs1801133 and rs1801131), also contribute to variability in drug response. Here we characterize the frequency of the pharmacogenetic variants involved in thiopurine metabolism in a healthy population of Kosovo. We genotyped 299 healthy blood donors for polymorphisms. Among TPMT variant alleles, TPMT*3A was observed at a frequency of 2.0%, and the TPMT*3C at 0.1%. Notably, the MTHFR 677T variant (rs1801133) was significantly more frequent in the Kosovo population (49.8%) compared with the global and European frequencies. The minor allele frequency of MTHFR rs1801131 was 27.4%. Minor allele frequencies for PACSIN2 rs2413739 and ITPA rs1127354 variants were 48.8% and 4.0%, respectively. Sequencing of NUDT15 revealed six variants, with rs116855232 present at frequency of 0.8%. These findings provide important insights into the pharmacogenomic profile of the Kosovo population and support the implementation of pre-emptive genotyping to improve the safety and efficacy of thiopurine therapy in the region.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"13 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12949057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147318263","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
Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature. 亚显微镜下16q24.2-q24.3缺失在一个非综合征性身材矮小的家庭。
IF 1
Human Genome Variation Pub Date : 2026-01-26 DOI: 10.1038/s41439-026-00336-4
Chisato Narita, Hidekazu Utsunomiya, Junpei Hamada, Ikuko Kageyama, Maki Fukami, Akie Nakamura
{"title":"Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature.","authors":"Chisato Narita, Hidekazu Utsunomiya, Junpei Hamada, Ikuko Kageyama, Maki Fukami, Akie Nakamura","doi":"10.1038/s41439-026-00336-4","DOIUrl":"10.1038/s41439-026-00336-4","url":null,"abstract":"<p><p>Array-based comparative genomic hybridization for a boy, his mother and his half-sister with etiology-unknown nonsyndromic short stature identified a hitherto unreported heterozygous ~1.5-Mb deletion at 16q24.2-q24.3. Whole-exome sequencing detected no pathogenic variants. Our results, in conjunction with previous reports of cases with similar deletions, indicate that the 16q24.2-q24.3 region provides a platform for submicroscopic deletions and possibly contains a gene(s) or regulatory elements involved in skeletal growth.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":" ","pages":"2"},"PeriodicalIF":1.0,"publicationDate":"2026-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12855966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146054073","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
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population. 日本普通人群中BRCA1/BRCA2致病变异的最新分析。
IF 1
Human Genome Variation Pub Date : 2026-01-21 DOI: 10.1038/s41439-026-00335-5
Tasuku Mariya, Masashi Idogawa, Tsuyoshi Saito, Hiroshi Nakase, Takashi Tokino, Akihiro Sakurai
{"title":"Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.","authors":"Tasuku Mariya, Masashi Idogawa, Tsuyoshi Saito, Hiroshi Nakase, Takashi Tokino, Akihiro Sakurai","doi":"10.1038/s41439-026-00335-5","DOIUrl":"10.1038/s41439-026-00335-5","url":null,"abstract":"<p><p>Recently, the Tohoku Medical Megabank Organization released whole-genome allele frequencies of single-nucleotide variants and indels from approximately 60,000 individuals from the general Japanese population in the Tohoku region (60KJPN). Here we analyzed the 60KJPN dataset for BRCA1/BRCA2 variants and compared them with the previous version, 54KJPN, to ascertain the frequency of hereditary breast and ovarian cancers in the general Japanese population. We hope that these results will contribute to strategies for cancer prevention.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":" ","pages":"1"},"PeriodicalIF":1.0,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12855926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146020170","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
Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations. 一名中国患者的婴儿磷酸酶低下：新的复合杂合ALPL突变的鉴定和特征。
IF 1
Human Genome Variation Pub Date : 2025-12-06 DOI: 10.1038/s41439-025-00334-y
Wenjuan Li, Shujing Zeng, Jun Jiang, Bin Liu
{"title":"Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations.","authors":"Wenjuan Li, Shujing Zeng, Jun Jiang, Bin Liu","doi":"10.1038/s41439-025-00334-y","DOIUrl":"10.1038/s41439-025-00334-y","url":null,"abstract":"<p><p>Here we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient's ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G>T; pathogenic; PVS1 + PM2 + PP4) and a paternally inherited missense variant (c.1405C>T, p.His469Tyr; reclassified as pathogenic; PP4 + PM2 + PP3). Both variants have previously been reported in gnomAD with very low frequency in Chinese infants.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":" ","pages":"29"},"PeriodicalIF":1.0,"publicationDate":"2025-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12689622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145688412","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
DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome. 来自日本鲁宾斯坦-泰比综合征患者的DNA甲基化数据。
IF 1.3
Human Genome Variation Pub Date : 2025-11-28 DOI: 10.1038/s41439-025-00332-0
Tomoko Kawai, Taiga Aoki, Kazuhiko Nakabayashi, Kenichiro Hata, Tadashi Kaname, Rika Kosaki
{"title":"DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.","authors":"Tomoko Kawai, Taiga Aoki, Kazuhiko Nakabayashi, Kenichiro Hata, Tadashi Kaname, Rika Kosaki","doi":"10.1038/s41439-025-00332-0","DOIUrl":"10.1038/s41439-025-00332-0","url":null,"abstract":"<p><p>An episignature is a genome-wide DNA methylation pattern that is specific to each syndrome or etiologic gene. Episignature analysis helps to diagnose patients with variants of uncertain significance (VUS), but this requires positive methylation datasets from patients with a definitive diagnosis. Here we provide methylation datasets of Rubinstein-Taybi syndrome at the individual patient level, which have not been published before. This dataset increases the likelihood of determining the function of the VUS.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"12 1","pages":"27"},"PeriodicalIF":1.3,"publicationDate":"2025-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12660993/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145640765","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 novel PKD1 variant in a patient with very-early-onset ADPKD. 早发性ADPKD患者的一种新的PKD1变异。
IF 1
Human Genome Variation Pub Date : 2025-11-22 DOI: 10.1038/s41439-025-00333-z
Tomomi Kondoh, Takuma Ando, Yuji Matsumoto, Naonori Kumagai, Yu Tanaka, Naoya Morisada, Kandai Nozu, Yohei Ikezumi
{"title":"A novel PKD1 variant in a patient with very-early-onset ADPKD.","authors":"Tomomi Kondoh, Takuma Ando, Yuji Matsumoto, Naonori Kumagai, Yu Tanaka, Naoya Morisada, Kandai Nozu, Yohei Ikezumi","doi":"10.1038/s41439-025-00333-z","DOIUrl":"10.1038/s41439-025-00333-z","url":null,"abstract":"","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":" ","pages":"28"},"PeriodicalIF":1.0,"publicationDate":"2025-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12660832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145582658","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
Fontaine progeroid syndrome with neonatal mitochondrial disease. 方丹类早衰综合征伴新生儿线粒体病。
IF 1.3
Human Genome Variation Pub Date : 2025-11-21 DOI: 10.1038/s41439-025-00331-1
Mitsuhiko Riko, Daiki Kawamoto, Kentaro Hirayama, Tomoya Tsuchihashi, Takayuki Suzuki, Takuya Sugimoto, Yasushi Okazaki, Kei Murayama, Daisuke Tokuhara
{"title":"Fontaine progeroid syndrome with neonatal mitochondrial disease.","authors":"Mitsuhiko Riko, Daiki Kawamoto, Kentaro Hirayama, Tomoya Tsuchihashi, Takayuki Suzuki, Takuya Sugimoto, Yasushi Okazaki, Kei Murayama, Daisuke Tokuhara","doi":"10.1038/s41439-025-00331-1","DOIUrl":"10.1038/s41439-025-00331-1","url":null,"abstract":"<p><p>Fontaine progeroid syndrome (FPS) is a rare condition characterized by abnormalities in SLC25A24. Some instances of FPS have been reported to be fatal early in life. Here we present the first case of mitochondrial disease diagnosed with FPS in Japan. The diagnosis was based on the presence of the heterozygous known pathogenic variant of SLC25A24, NM_013386.5: c.649C>T and decreased activity of mitochondrial respiratory chain enzyme activity.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"12 1","pages":"26"},"PeriodicalIF":1.3,"publicationDate":"2025-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12639141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145574732","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 novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family. 一个新的纯合子DST变异导致遗传性感觉和自主神经病变在巴基斯坦的一个家庭。
IF 1.3
Human Genome Variation Pub Date : 2025-11-18 DOI: 10.1038/s41439-025-00330-2
Asad Munir, Helen Nabiryo Frederiksen, Fawad Ali, Sabawoon Shah, Abdur Rashid, Sergey Oreshkov, Kashif Khan, Muhammad Shahzeb, Inam Ullah, Hamid Ur Rahman, Mukhtar Ullah, Muhammad Ansar, Atta Ur Rehman
{"title":"A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.","authors":"Asad Munir, Helen Nabiryo Frederiksen, Fawad Ali, Sabawoon Shah, Abdur Rashid, Sergey Oreshkov, Kashif Khan, Muhammad Shahzeb, Inam Ullah, Hamid Ur Rahman, Mukhtar Ullah, Muhammad Ansar, Atta Ur Rehman","doi":"10.1038/s41439-025-00330-2","DOIUrl":"10.1038/s41439-025-00330-2","url":null,"abstract":"<p><p>Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired motor development and autonomic abnormalities with highly variable age of onset and severity. Here we report a novel homozygous DST variant in association with HSAN-VI in two Pakistani siblings.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"12 1","pages":"25"},"PeriodicalIF":1.3,"publicationDate":"2025-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12627412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145551237","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
Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome. 与马凡氏综合征相关的异位晶状体患者的双等位基因camd8变异
IF 1
Human Genome Variation Pub Date : 2025-10-27 DOI: 10.1038/s41439-025-00329-9
Daiju Oba, Mariko Sagara, Sayuri Oda, Miyu Fukushima, Kenta Hasumi, Hirofumi Ohashi
{"title":"Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.","authors":"Daiju Oba, Mariko Sagara, Sayuri Oda, Miyu Fukushima, Kenta Hasumi, Hirofumi Ohashi","doi":"10.1038/s41439-025-00329-9","DOIUrl":"10.1038/s41439-025-00329-9","url":null,"abstract":"<p><p>Here we report an 18-year-old male patient with bilateral ectopia lentis and biallelic CPAMD8 variants (NM_015692.5:c.[2801delG];[4552C>T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]). He exhibited previously unreported extraocular features, including a slender build, scoliosis, arachnodactyly and positive thumb sign and wrist sign, which is reminiscent of Marfan syndrome. These findings may suggest that CPAMD8-related disorder is a syndromic condition associated with extraocular systemic features similar to those seen in Marfan syndrome.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"12 1","pages":"24"},"PeriodicalIF":1.0,"publicationDate":"2025-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12559352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145379149","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
Biallelic MINAR2 variant is associated with nonsyndromic severe to profound sensorineural hearing loss. 双等位基因MINAR2变异与非综合征性重度至重度感音神经性听力损失相关。
IF 1.3
Human Genome Variation Pub Date : 2025-10-23 DOI: 10.1038/s41439-025-00328-w
Naif A M Almontashiri
{"title":"Biallelic MINAR2 variant is associated with nonsyndromic severe to profound sensorineural hearing loss.","authors":"Naif A M Almontashiri","doi":"10.1038/s41439-025-00328-w","DOIUrl":"10.1038/s41439-025-00328-w","url":null,"abstract":"<p><p>MINAR2 is essential for normal hearing by regulating cholesterol localization in stereocilia in hair cells. MINAR2 knockout results in rapidly progressive sensorineural hearing loss (SNHL) in mice and zebrafish models. Recently, biallelic variants in MINAR2 have been reported to cause SNHL in four unrelated families with nonsyndromic severe to profound SNHL. Here we provide a second report of an additional family with SNHL. The index patient presented with nonsyndromic severe to profound SNHL. The family history was remarkable for a 20-year-old male sibling with nonsyndromic severe to profound SNHL. Both patients did not have any neurological involvement. Trio whole-exome sequencing of the index and his parents revealed a homozygous nonsense variant in MINAR2 (NM_001257308.2:c.319A>T; p.(Lys107*) in the index. Parents were heterozygous for the same variant. This variant introduces an early stop codon and probably results in a loss of function because of the predicted nonsense-mediated decay. Our study provides the first independent confirmation of the MINAR2-related SNHL.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"12 1","pages":"23"},"PeriodicalIF":1.3,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12549799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145355785","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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