Journal of Human Genetics最新文献

{"title":"Novel variants in LINC and TTM complexes of meiotic chromosome dynamics are associated with meiotic arrest and non-obstructive azoospermia","authors":"Qian Sun, Wenbo Li, Jiyu Meng, Yuxiang Zhang, Xinjie Bu, Jian Huang, Dewei Qian, Na Li, Erlei Zhi, Ruhui Tian, Yuhua Huang, Jingpeng Zhao, Fujun Zhao, Yanfei Ru, Gang Liu, Zheng Li, Chencheng Yao","doi":"10.1038/s10038-026-01492-9","DOIUrl":"10.1038/s10038-026-01492-9","url":null,"abstract":"Non-obstructive azoospermia (NOA) represents the most severe type of male infertility. The linker of nucleoskeleton and cytoskeleton (LINC) complex and the TERB1–TERB2–MAJIN (TTM) telomere-tethering complex are essential for meiotic chromosome dynamics; however, pathogenic variants in these pathways have rarely been characterized in human NOA. In this study, whole-exome sequencing (WES) identified novel bi-allelic variants in genes encoding components of the LINC and TTM complexes in patients with NOA, including compound heterozygous variants in KASH5 (NM_144688.5:c.149-1G>A; NM_144688.5:c.876+1G>A), homozygous variant in TERB1 (NM_001136505:c.1814G>A, p.Arg605Gln), compound heterozygous variants in TERB2 (NM_152448.3:c.39dup, p.Ser14Ter; NM_152448.3:c.522A>G, p.Thr174Thr), and homozygous splice-site variant in MAJIN (NM_001318808.2:c.219+1G>T). Testicular histology and immunofluorescence analyses concordantly demonstrated a shared phenotype of meiotic prophase I arrest and absence of post-meiotic germ cells in these patients. Minigene assays demonstrated that the splice-site variants in KASH5 (c.149-1G>A; c.876+1G>A), TERB2 (c.522A>G), and MAJIN (c.219+1G>T) induced aberrant exon-skipping events. The frameshift variant in TERB2 (c.39dup) resulted in complete loss of protein expression, whereas the missense variant of TERB1 (c.1814G>A) led to markedly reduced protein levels and disruption of the TRF1-binding domain via in silico structural modeling. Collectively, this study demonstrated that novel variants in LINC and TTM complexes of meiotic chromosome dynamics are associated with meiotic arrest and NOA, which expanded the mutational spectrum of LINC- and TTM-related genes and deepen our knowledge of the role of LINC- and TTM-complex in male fertility.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 10","pages":"639-649"},"PeriodicalIF":2.3,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148436899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Towards sustainable hereditary breast and ovarian cancer surveillance: insights from a single-center survey","authors":"Yumiko Goto, Tomoko Seki, Daisuke Nakato, Kohei Nakamura, Tomoko Yoshihama, Masayuki Tanaka, Ikumi Ono, Kumiko Misu, Yusuke Kobayashi, Kenta Masuda, Hiromasa Takaishi, Wataru Yamagami, Kenjiro Kosaki","doi":"10.1038/s10038-026-01491-w","DOIUrl":"10.1038/s10038-026-01491-w","url":null,"abstract":"Hereditary breast and ovarian cancer (HBOC) syndrome, caused by pathogenic variants in BRCA1 or BRCA2, is associated with increased risks of breast, ovarian, pancreatic, and prostate cancers. Although long-term, multi-organ surveillance is recommended, real-world data on its implementation in Japan remain limited. We conducted a web-based cross-sectional survey among 274 individuals registered for a hybrid public lecture at Keio University Hospital in 2024; 121 responded (44.2%). Respondents included HBOC carriers, healthcare professionals, and the general public. Among 66 carriers, 57 were affected and 9 were unaffected. Although the sample size is small, surveillance uptake was high among affected carriers (89.5%). Approximately half of affected carriers undergoing surveillance reported satisfaction, while nearly half underwent surveillance at multiple institutions, suggesting fragmented care. Across all groups including healthcare professionals and the general public, the most acceptable annual cost was less than 50,000 yen. Healthcare professionals identified interdepartmental coordination and shortages of genetic specialists as major challenges. These exploratory findings suggest that affordability, convenience, interdepartmental and interfacility coordination, and the availability of genetic medicine professionals may be important considerations in efforts to develop sustainable HBOC surveillance systems in Japan.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 9","pages":"541-545"},"PeriodicalIF":2.3,"publicationDate":"2026-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148396862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age-dependent association of the METTL23 c.84+60delAT variant with normal-tension glaucoma.","authors":"Yang Pan, Kazutoshi Yoshitake, Naoko Minematsu, Fumihiko Mabuchi, Mitsuko Takamoto, Yukihiro Shiga, Kenji Kashiwagi, Makoto Aihara, Toru Nakazawa, Takeshi Iwata","doi":"10.1038/s10038-026-01490-x","DOIUrl":"https://doi.org/10.1038/s10038-026-01490-x","url":null,"abstract":"<p><p>Normal-tension glaucoma (NTG) is an age-related cause of irreversible vision loss, yet the contribution of genetic variants to susceptibility across the lifespan remains unclear. The splice-site variant METTL23 c.84+60delAT (delAT), which induces aberrant exon skipping, has been implicated in NTG. We evaluated the age-dependent genetic risk associated with delAT by integrating age-stratified carrier frequency analyses in population datasets with age-specific case control association analyses in 3843 individuals. In the gnomAD database, the frequency of delAT carriers declined sharply with age, decreasing approximately sixfold in individuals aged ≥40 years. Consistent with this finding, case-control analyses demonstrated increasing effect sizes with advancing age, with odds ratios of 1.84 in individuals aged ≥40 years and 2.59 in those ≥50 years (P = 0.039). These complementary analyses provide convergent evidence that delAT confers an age-dependent increase in NTG risk, underscoring the importance of incorporating age into genetic analyses of late-onset disease.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148382126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations","authors":"Katsuki Eguchi,&nbsp;Satoko Miyatake,&nbsp;Asako Takei,&nbsp;Hiroaki Yaguchi,&nbsp;Yuki Iida,&nbsp;Shinsuke Hamada,&nbsp;Yoshiko Ito,&nbsp;Sanae Honma,&nbsp;Fumio Moriwaka,&nbsp;Taishi Wada,&nbsp;Takashi Jono,&nbsp;Misako Kunii,&nbsp;Hiroyasu Komiya,&nbsp;Hitaru Kishida,&nbsp;Hiroshi Doi,&nbsp;Fumiaki Tanaka,&nbsp;Naomichi Matsumoto,&nbsp;Ichiro Yabe","doi":"10.1038/s10038-026-01489-4","DOIUrl":"10.1038/s10038-026-01489-4","url":null,"abstract":"Spinocerebellar ataxia type 36 (SCA36)—caused by a GGCCTG hexanucleotide repeat expansion in the NOP56 gene—has traditionally been considered to originate from a founder effect in the Ashida River basin of southern Japan. However, its genetic background remains incompletely understood. In this study, we analyzed five Japanese patients with SCA36 from four unrelated families using long-read sequencing to determine repeat length and reconstruct detailed haplotypes around the NOP56 locus. We successfully resolved extended haplotypes ranging from approximately 90 kb to 1.3 Mb. All five individuals shared a 5.3-kb haplotype adjacent to the repeat expansion, while four patients from northern Japan shared a larger haplotype block of at least 95.2 kb. Comparison with seven previously reported Korean SCA36 cases revealed a shared 4.2-kb haplotype, and available data from other populations were concordant within a ~ 2.1-kb core region. Notably, the shared 5.3-kb haplotype is relatively common in the general population, suggesting that the underlying core haplotype may represent a permissive haplotypic background rather than a unique founder haplotype. These findings indicate that SCA36 is unlikely to be explained solely by a regional founder in southern Japan. Instead, a shared permissive haplotypic background may underlie repeat expansion, with large pathogenic expansion arising independently in different populations. This pattern may be consistent with a stepwise process of repeat expansion.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 10","pages":"633-638"},"PeriodicalIF":2.3,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148368636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Activation of cryptic donor splice site due to an exonic MYPN variant in congenital myopathy","authors":"Guangyu Wang,&nbsp;Guiguan Yang,&nbsp;Yaru Wang,&nbsp;Chuanzhu Yan,&nbsp;Pengfei Lin","doi":"10.1038/s10038-026-01488-5","DOIUrl":"10.1038/s10038-026-01488-5","url":null,"abstract":"Biallelic pathogenic variants in the MYPN gene are a known cause of congenital myopathy, and exonic variants that activate cryptic splice sites have not been previously reported. Here, we report a Chinese proband with congenital myopathy carrying a homozygous nonsense variant, c.2986C&gt;T (p.Arg996Ter), in exon 14 of the MYPN gene. Transcriptional analysis suggested that this variant likely activated a cryptic donor splice site, truncating the last 91 nucleotides of exon 14 during pre-mRNA splicing. Western blotting and immunofluorescence confirmed a deficiency of myopalladin protein in the proband’s skeletal muscle. Our study highlights that exonic variants, particularly those distant from exon-intron junctions, can induce aberrant pre-mRNA splicing. This insight is crucial for interpreting the pathogenicity of variants of uncertain significance and enhancing diagnostic yield in genetic testing.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 10","pages":"683-688"},"PeriodicalIF":2.3,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148345532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI","authors":"Sara H. El-Dessouky,&nbsp;Wessam E. Sharaf-Eldin,&nbsp;Islam F. Soliman,&nbsp;Mona M. Aboulghar,&nbsp;Ahmed Abou El-Serour,&nbsp;Ashraf Ali,&nbsp;Sameh Senousy,&nbsp;Lova Matsa,&nbsp;Mohamed Maher,&nbsp;Dalia S. Zolfokar,&nbsp;Mohamed A. Youssef,&nbsp;Hatem A. Mousa,&nbsp;Maha M. Eid,&nbsp;Maha S. Zaki,&nbsp;Ebtesam M. Abdalla","doi":"10.1038/s10038-026-01485-8","DOIUrl":"10.1038/s10038-026-01485-8","url":null,"abstract":"The genetic landscape of human infertility is complex with diverse etiologies. Identifying the underlying etiology is crucial for guiding reproductive decisions and improving management for infertile couples. Here, we aim to report on the molecular spectrum of monogenic genetic causes of reproductive failure. Over a 3-year period, we recruited all infertile couples considering assisted reproductive technologies (ART) for whom the underlying genetic cause had been identified, in either partner, using exome sequencing (ES). Clinical data of all participants along with their hormonal profiles, sonographic findings and spermograms were recorded. The study included 50 couples with primary infertility. Clinically, male factor infertility was documented in 26 patients, female factor infertility in 10, while reproductive failure was unexplained in the remaining 14 couples. All participating couples had potentially disease-causing variants in infertility genes. ES identified variants related to male infertility in 26 men, while variants in female infertility-related genes were detected in the remaining couples (n = 24). According to ACMG classification criteria, 78% (39/50) of couples harbored pathogenic/likely pathogenic (P/LP) variants, whereas 22% (11/50) carried variants of uncertain significance (VUS). In view of the identified genetic etiologies, the cohort was stratified into two groups based on the predicted reproductive outcome: (1) couples with significantly impaired reproductive potential, and (2) couples who can have biological children using appropriate medical interventions. However, classifications involving VUS were interpreted cautiously and considered exploratory. This study provides further evidence for the molecular heterogeneity of human infertility and highlights the usefulness of genetic testing for infertile couples pursuing ARTs.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 9","pages":"605-613"},"PeriodicalIF":2.3,"publicationDate":"2026-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148317659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient","authors":"Hiroyuki Mishima,&nbsp;Yoriko Watanabe,&nbsp;Uladzislau Korzun,&nbsp;Koh-ichiro Yoshiura","doi":"10.1038/s10038-026-01487-6","DOIUrl":"10.1038/s10038-026-01487-6","url":null,"abstract":"Long-read sequencing (LRS) is a powerful tool for detecting structural variants (SVs), which are major causes of genetic diseases. However, the application of trio-based analysis to LRS data remains challenging due to the complexity of merging and comparing SVs across individuals. Here, we established a workflow to prioritize pathogenic SVs using trio-based LRS whole-genome sequencing. The workflow integrates high-accuracy basecalling, trio-based phasing, and multiple SV callers (CuteSV and Sniffles2). We employed the PanPop Realign and Thin (PART) process to merge SVs and utilized the JSV1 Japanese population-specific SV frequency dataset to filter common variants. We evaluated this workflow using 12 family trios from the Initiatives for Rare and Undiagnosed Diseases (IRUD) project. The workflow successfully prioritized candidate SVs by narrowing down tens of thousands of loci to less than ~20 with X-linked homozygous and de novo models for manual inspection. Notably, we identified a pathogenic AluY element insertion in the GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. This variant had been missed by previous short-read whole-exome sequencing but was clearly prioritized by our LRS workflow. Our workflow effectively prioritizes pathogenic SVs from LRS data, demonstrating the clinical utility of LRS for diagnosing rare diseases involving complex SVs without prior knowledge of candidate genes or loci.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 10","pages":"625-632"},"PeriodicalIF":2.3,"publicationDate":"2026-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148301955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional effect predictions for ion channel missense variants using a protein language model","authors":"Seán Gies,&nbsp;Artoghrul Alishbayli,&nbsp;Paul H. E. Tiesinga,&nbsp;Marijn B. Martens","doi":"10.1038/s10038-026-01484-9","DOIUrl":"10.1038/s10038-026-01484-9","url":null,"abstract":"Channelopathies represent a group of diseases often caused by missense variants in ion channels affecting the functioning of tissues like the nervous system, heart, and muscle. The gold standard for functionally characterizing a variant is to measure the electrophysiological changes in channel properties using cell-based heterologous expression systems. As this method is time-consuming and generally unavailable, clinical practice often relies on in-silico models to predict the functional consequences of ion channel variants. We constructed a Missense ION (MissION) channel variant classifier based on a protein language model and trained it on 1996 gain- or loss-of-function variants, the largest set collected to date, in order to predict the functional effects of variants across a broad range of ion channels. MissION achieves a significant increase in predictive performance (Area Under the Receiver Operating Characteristic Curve (ROC-AUC): 0.918, compared to 0.884 and 0.779 for the current leading models). Moreover, the model generalizes well to ion channel genes for which little or no electrophysiological recordings are available. MissION provides functional predictions for over 600,000 ion channel variants, made available through an online interface that allows variant interpretation for a wide range of channelopathies.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 9","pages":"595-604"},"PeriodicalIF":2.3,"publicationDate":"2026-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148301926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches","authors":"Youn-Ji Hong,&nbsp;Mi-Ae Jang,&nbsp;Dongmin Yang,&nbsp;Jong-Won Kim,&nbsp;Jinyoung Youn,&nbsp;Jin Whan Cho,&nbsp;Ja-Hyun Jang","doi":"10.1038/s10038-026-01486-7","DOIUrl":"10.1038/s10038-026-01486-7","url":null,"abstract":"Pathogenic variants in GBA1 are a significant genetic risk factor for Parkinson disease (PD). Owing to high sequence homology between GBA1 and its pseudogene GBAP1, short-read NGS (srNGS) is susceptible to read misalignment, particularly in the presence of recombinant alleles. A targeted short-read NGS (srNGS) panel was applied to 175 selected Korean patients with PD, including those with early-onset disease, family history, preoperative assessment, or atypically rapid progression, identifying GBA1 copy-number loss in five patients. Confirmatory testing using MLPA, long-range PCR followed by Sanger sequencing, and long-read sequencing demonstrated that these findings represented recombinant alleles rather than simple deletions in four cases, while confirmatory analysis could not be performed in one case due to insufficient DNA. Thus, recombinant alleles were identified in at least 2.3% (4/175) of patients. We further evaluated whether GBAP1 copy-number analysis could aid interpretation of srNGS findings. GBAP1 copy-number patterns were concordant with confirmatory results in all four cases, indicating gene conversion events; in the remaining case, for which confirmatory testing could not be performed due to insufficient DNA, the pattern was suggestive of a fusion allele. Our findings demonstrate that recombinant alleles may present as exon-level deletions on targeted srNGS. We propose that concurrent GBAP1 copy-number analysis provides a practical interpretive aid for distinguishing recombinant rearrangements from simple copy-number alterations and for guiding confirmatory test selection in routine diagnostics.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 10","pages":"617-624"},"PeriodicalIF":2.3,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148283913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center study","authors":"Shiho Uchida,&nbsp;Yuki Mizuguchi,&nbsp;Suguru Sato,&nbsp;Kou Sueoka,&nbsp;Mamoru Tanaka","doi":"10.1038/s10038-026-01483-w","DOIUrl":"10.1038/s10038-026-01483-w","url":null,"abstract":"Non-invasive prenatal testing (NIPT) is widely used for fetal aneuploidy screening; however, most evaluations of test accuracy rely on pregnancy outcomes rather than cytogenetic confirmation after birth, and evidence regarding the real-world performance of single-nucleotide polymorphism (SNP)-based NIPT remains limited. We analyzed prospectively collected clinical data from pregnant women at high risk of fetal aneuploidy who underwent SNP-based NIPT between 2013 and 2022 to evaluate its analytical accuracy using neonatal buccal mucosal fluorescence in situ hybridization (FISH). Positive NIPT results were followed by amniocentesis, whereas negative results were systematically validated by postnatal buccal mucosal FISH. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for trisomies 13, 18, and 21. Among 4466 women undergoing initial testing, a total of 4502 tests were performed, including 36 repeat tests after redraw. Of these tests, 4366 (97.0%) were negative, 73 (1.6%) were positive, and four (0.1%) yielded “no call” results after redraw. Sensitivity for trisomies 13, 18, and 21 was 94.6%, 100.0%, and 80.0%, respectively, with a specificity of 99.9% for all three conditions. The overall PPV was 89.1% and the NPV was 99.9%. Two false-negative cases (0.06%) were identified, both attributable to low-level mosaicism. Of the initial “no call” cases, 88.9% yielded reportable results after redraw. These findings demonstrate that SNP-based NIPT shows high analytical performance when validated with neonatal cytogenetic confirmation, while rare false-negative results due to mosaicism highlight the biological limitations of cfDNA-based screening and the importance of cytogenetic confirmation when ultrasound abnormalities are present.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"71 9","pages":"579-585"},"PeriodicalIF":2.3,"publicationDate":"2026-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.comhttps://www.nature.com/articles/s10038-026-01483-w.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148163431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}