Journal of Medical Genetics最新文献

{"title":"New patients with duplication of the pituitary gland-plus syndrome, including a <i>PTCH2</i> variant and a literature review.","authors":"Kochakorn Buasri, Pattima Pakhathirathien, Thiparom Sananmuang, Sarayuth Dumrongwongsiri, Anucha Thatrimontrichai, Gunlawadee Maneenil, Arthaporn Khongkraparn, Lukana Ngiwsara, Phannee Sawangareetrakul, Jisnuson Svasti, Anne Slavotinek, Duangrurdee Wattanasirichaigoon","doi":"10.1136/jmg-2024-110417","DOIUrl":"10.1136/jmg-2024-110417","url":null,"abstract":"<p><strong>Background: </strong>Duplication of the pituitary gland (DPG)-plus syndrome is an extremely rare developmental malformation of unknown aetiology.</p><p><strong>Methods: </strong>Two unreported patients of DPG-plus syndrome are described. Underlying genetic defects were explored, including chromosomal microarray (CMA), whole exome sequencing (WES) and mRNA analysis. A literature review was presented.</p><p><strong>Results: </strong>Patient 1 had DPG, palatal cleft, bifid tongue, intraoral teratoma, lingual hamartoma and duplicated basilar artery and odontoid process. Patient 2 had DPG, epignathus teratoma, a nasal mass, choanal atresia, cleft palate, bifid tongue, abnormal basilar artery and fused upper cervical spine. CMA yielded normal results. WES of patient 1 disclosed a novel splice site <i>PTCH2</i> variant, c.1590+1G>A, leading to exon 12 skipping and an in-frame deletion of 44 amino acids. WES of patient 2 revealed no candidate variants. A literature review of 51 cases showed mostly reported in childhood and female sex (80%). The leading anomalies identified included DPG (100%), cleft palate (68.6%), anomalous cervical spine (56.9%), hypothalamic mass/enlargement (58.8%), intraoral teratoma (58.8%), basilar arterial abnormalities (43.1%) and bifid/trifid tongue (23.5%). Non-craniofacial anomalies were found in <10% of cases. Late complications included precocious puberty, all in female patients, and hypogonadotropic hypogonadism in a few patients.</p><p><strong>Conclusions: </strong>Two new cases of DPG-plus syndrome were reported, with rare findings of epignathus and choanal atresia. We propose that DPG-plus syndrome may result from a double hit in one of the genes involved in <i>SHH</i> signalling, arising from a germline pathogenic variant with mosaicism for a somatic pathogenic variant or digenic/oligogenic inheritance of the <i>SHH</i> signalling-related genes.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"726-733"},"PeriodicalIF":3.7,"publicationDate":"2025-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144847142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Homologous recombination deficiency in unselected cases of high-grade ovarian carcinoma.","authors":"Robert D Morgan, George J Burghel, Joseph Shaw, Helene Schlecht, Debbie Baishnab, Thomas Pilkington, Sudha Desai, Zena Salih, Claire Mitchell, Jurjees Hasan, Andrew R Clamp, Gordon C Jayson, Stephen S Taylor, D Gareth R Evans","doi":"10.1136/jmg-2025-110903","DOIUrl":"10.1136/jmg-2025-110903","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"724-725"},"PeriodicalIF":3.7,"publicationDate":"2025-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144855520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploration of possible association of <i>BRIP1</i> pathogenic variants with central nervous system cancers in an institutional cohort.","authors":"Jacqueline Cappadocia, Kara N Maxwell, Katherine L Nathanson, Stephen Bagley, Jacquelyn Powers, Eitan Halper-Stromberg, Jacquelyn J Roth, Susan Domchek, Payal D Shah","doi":"10.1136/jmg-2025-110764","DOIUrl":"10.1136/jmg-2025-110764","url":null,"abstract":"<p><p><i>BRIP1</i> (OMIM: 605882), associated with hereditary ovarian cancer, has recently been described in association with central nervous system (CNS) tumours. Institutional germline database review identified 43 families with <i>BRIP1</i> pathogenic germline variants (PGVs); 7 families (16.3%) reported 8 CNS tumours. Somatic database review identified 1143 individuals with CNS tumours who underwent somatic sequencing, of whom 7 had <i>BRIP1</i> pathogenic variants (PVs) (0.6%); 1 of 2 germline-tested individuals had a <i>BRIP1</i> PGV. Though <i>BRIP1</i> PVs are rare in CNS tumours, a substantial proportion of <i>BRIP1</i> carriers have a positive family history. Obtaining and documenting the clinical and pathological characteristics of reported CNS tumours in <i>BRIP1</i> individuals and families is key to exploring a possible association.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"720-723"},"PeriodicalIF":3.7,"publicationDate":"2025-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144804258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital heart disease in 22q11.2 deletion syndrome: a meta-analysis and systematic review of the literature.","authors":"Carina Sauter, Michael Hofbeck, Paula Franz, Laura Kettenstock, Klara Steger, Matthias Linhardt, Andrea Reiter, Stefan Störk, Marcel Romanos, Franziska Radtke","doi":"10.1136/jmg-2025-110624","DOIUrl":"10.1136/jmg-2025-110624","url":null,"abstract":"<p><p>The 22q11.2 deletion syndrome (22q11.2DS) results from a heterozygous deletion at chromosomal locus 22q11.2 and is associated with multisystem symptoms, including cardiovascular, psychiatric and palatal manifestations. Although congenital cardiovascular aberrations are frequent in patients with 22q11.DS, exact prevalence figures remain unclear. Literature was searched in August 2022 and updated in May 2024 using the databases PubMed, Web of Science and Cochrane library to retrieve studies in English and German focusing only on studies involving 22q11.2DS. Prevalence data for cardiovascular aberrations were arcsine transformed and summarised by random-effects models using Meta-XL. Evidence quality was assessed via the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach. The systematic searches identified 4338 studies, of which 7 were included for the meta-analysis of prevalence using random-effects models and sensitivity analyses. The pooled prevalence for heart defects (mean; 95% CI) was found to be elevated for tetralogy of Fallot (20%; 0.17 to 0.23), ventricular septal defect (14%; 0.12 to 0.16), pulmonary atresia with ventricular septal defect (9%; 0.06; 0.12), interrupted aortic arch (10%; 0.06 to 0.15), truncus arteriosus communis (9%; 0.07 to 0.12) and atrial septal defect (3%; 0.01 to 0.04). The risk of bias of the included studies was low to moderate. This study, to our knowledge, represents the first systematic review and meta-analysis of prevalences for congenital cardiovascular aberrations in individuals with 22q11.2DS. The high frequencies observed underline the need for cardiovascular screening in patients with 22q11.2DS and genetic screening for 22q11.2DS in congenital heart disease.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"700-708"},"PeriodicalIF":3.7,"publicationDate":"2025-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144760332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.","authors":"Jeanne Jury, Thomas Besnard, Wallid Deb, Annick Toutain, Paul Gueguen, Ange-Line Bruel, Arjan Bouman, Danielle Veenma, Tahsin Stefan Barakat, Laura Do Souto Ferreira, Petra J G Zwijnenburg, Sarah Schuhmann, Georgia Vasileiou, Matthieu Egloff, Frédéric Bilan, Anne Mercier, Pascaline Letard, Elsa Leitão, Christopher Schroeder, Christel Depienne, Pierre Blanc, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor","doi":"10.1136/jmg-2024-110471","DOIUrl":"10.1136/jmg-2024-110471","url":null,"abstract":"<p><strong>Purpose: </strong>Williams-Beuren syndrome (WBS) is a well-known neurodevelopmental disorder caused by a copy-number loss at the 7q11.23 locus. Although the 1.5-1.8 Mb recurrent deletion carries several genes of interest, no single gene has been identified in which pathogenic variants cause a neurodevelopmental phenotype. At this locus, <i>GTF2I,</i> encoding the general transcription factor II-I, has been considered as the main candidate gene for the cognitive and behavioural phenotype of WBS, based on clinical observations of cases with atypical 7q.11.23 deletions and functional studies in humans and mice.</p><p><strong>Methods: </strong>Individuals with a neurodevelopmental disorder were identified through a multicentre collaboration using GeneMatcher and the ERN-ITHACA network. They remained undiagnosed following genome/exome sequencing. Clinical evaluations were performed in each participating centre.</p><p><strong>Results: </strong>We identified seven unrelated individuals with <i>de novo</i> variants in <i>GTF2I</i> (two non-sense, two splice-site, one missense, one indel and one intragenic deletion). We also identified one individual with a WBS phenotype and low <i>GTF2I</i> expression identified by RNA sequencing. All eight individuals presented with global developmental delay and facial dysmorphic features, with speech delay and/or autistic features in seven cases. The effect of the two splice-site variants was confirmed by RNA sequencing.</p><p><strong>Conclusion: </strong>Pathogenic heterozygous <i>GTF2I</i> variants cause a neurodevelopmental disorder characterised by global developmental delay with facial dysmorphic features, partly resembling the phenotype observed in individuals affected with WBS.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.","authors":"Marion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, Aurélie Gouronc, Nicolas Chatron, Anne-Lise Poulat, Audrey Putoux, Alice Goldenberg, Mathilde Quibeuf, Pascal Chambon, Sophie Rondeau, Giulia Barcia, Jonathan Levy, Juliette Piard, Paul Kuentz, Martine Doco-Fenzy, Nathalie Bednarek, Roseline Caumes, Sonia Bouquillon, Cedric Le Caignec, Olivier Patat, Philippe Khau Van Kien, Jean Chiesa, Geoffroy Delplancq, Séverine Bacrot, Sophie Brisset, Emmanuelle Ginglinger, Vincent Cantagrel, Jerica Lenberg, Jennifer R Friedman, Marlène Rio, Sophie Scheidecker, Valerie Malan","doi":"10.1136/jmg-2025-110631","DOIUrl":"https://doi.org/10.1136/jmg-2025-110631","url":null,"abstract":"<p><strong>Background: </strong>Pathogenic gain-of-function or dominant-negative effect missense variations in <i>ACTB</i> are associated with a neurodevelopmental disorder characterised by intellectual disability (ID), seizures, sensorineural hearing loss, cerebral, renal and ocular abnormalities and dysmorphic features (Baraitser-Winter cerebrofrontofacial syndrome). <i>ACTB</i> encodes beta-actin, a highly conserved protein involved in cell motility, structure and integrity. Deletions including <i>ACTB,</i> and, more rarely, single-nucleotide loss-of-function variants in <i>ACTB</i> have been described in patients with a distinct phenotype including developmental delay, ID, microcephaly, growth restriction, cardiac and renal abnormalities and dysmorphic features.</p><p><strong>Methods: </strong>We collected 14 individuals and 1 fetus carrying a heterozygous deletion including <i>ACTB</i>, and 4 individuals with a heterozygous truncating variant. Genotypic and phenotypic data were analysed. Furthermore, a comprehensive review of all cases reported to date was also undertaken.</p><p><strong>Results: </strong>Twelve out of 17 individuals presented with ID, and 3 out of 17 with learning disabilities. Speech delay and behavioural abnormalities were observed in 15 out of 17 and 12 out of 17 individuals, respectively, motor delay in 9 out of 17 and growth restriction in 9 out of 18. Most of the individuals (13/18) had recognisable dysmorphic features. 11 anomalies were de novo, except for 1 deletion inherited from the mother. The size of the deletion varied from 125 kb to 1.6 Mb and could result from a fork stalling and template switching.</p><p><strong>Conclusion: </strong>This study allowed us to better characterise the phenotype associated with the haploinsufficiency of <i>ACTB,</i> underlying the high prevalence of neurodevelopmental disorders (ID, speech and motor delay, behavioural abnormalities) and growth restriction in this recognisable syndrome.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145251418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify.","authors":"Sihan Liu, Xiaoshu Feng, Yang Wu, Fengxiao Bu","doi":"10.1136/jmg-2025-110863","DOIUrl":"10.1136/jmg-2025-110863","url":null,"abstract":"<p><strong>Background: </strong>Improving the precision and accuracy of variant classification in clinical genetic testing requires further specification and stratification of the American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) criteria. While the ClinGen Bayesian framework enables quantitative evidence calibration for selected criteria, standardised tools to optimise evidence thresholds and refine ACMG/AMP criteria remain underdeveloped.</p><p><strong>Methods: </strong>To address this need, we developed <i>BayesQuantify</i>, an R package that provides a unified tool for quantifying evidence strength for the ACMG/AMP criteria based on the Bayesian framework. <i>BayesQuantify</i> accepts a variant classification file as input and automatically calculates the odds of pathogenicity for each evidence strength, incorporating a user-provided prior probability of pathogenicity. Through bootstrapping, <i>BayesQuantify</i> generates thresholds by aligning the 95% lower bound of positive likelihood ratio/local positive likelihood ratio with the odds of pathogenicity for different evidence strengths. Three independent datasets derived from ClinVar, HGMD and gnomAD were used to evaluate the utility of <i>BayesQuantify</i>.</p><p><strong>Results: </strong><i>BayesQuantify</i> supports the calibration of both categorical and continuous ACMG/AMP evidence. Specifically, we replicated the PP3/BP4 thresholds for four computational tools recommended by ClinGen. Our analysis also indicated that the PM2 criterion can reach 'supporting,' or 'moderate,' evidence, varying by prior probability. Importantly, we established thresholds for supporting, moderate and strong evidence for in-silico tools, thereby expanding the application of PP3/BP4 criteria for missense variants in the <i>PTEN</i> gene.</p><p><strong>Conclusion: </strong><i>BayesQuantify</i> is a user-friendly tool that enhances the flexibility and reproducibility of ACMG/AMP criteria refinement, thus improving the accuracy and consistency of variant classification. The package is freely available at https://github.com/liusihan/BayesQuantify.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health-related quality of life in patients with mitochondrial disease and their carers.","authors":"Deborah Schofield, Joshua Kraindler, Katherine Lim, Owen Tan, Sameen Haque, Karen Crawley, Sarah West, Adam Percival, Jayamala Parmar, Rupendra Shrestha, Carolyn Sue","doi":"10.1136/jmg-2025-110896","DOIUrl":"https://doi.org/10.1136/jmg-2025-110896","url":null,"abstract":"<p><strong>Background: </strong>Mitochondrial diseases are a group of rare, chronic disorders with a significant disease burden; however, there is limited knowledge about their effects on the health-related quality of life (HRQoL) of patients and their carers. This study estimates HRQoL among adult patients with mitochondrial diseases and their carers, using the Assessment of Quality-of-Life 8D (AQoL-8D), a validated instrument for measuring health utilities.</p><p><strong>Methods: </strong>Ninety-nine adult patients and 24 carers were recruited to the Economic and Psychosocial Impacts of Caring for Families Affected by Mitochondrial Disease (EPIC-MITO) Study, based in New South Wales, Australia.</p><p><strong>Results: </strong>Adult patients exhibited significantly lower utility values (0.52) compared with age-adjusted and gender-adjusted population norms (0.80; p<0.001). Regression analysis shows that mental health disorders, sleep disorders, financial stress and female gender were associated with reduced HRQoL. Carers also demonstrated AQoL-8D utility values (0.70) significantly below age-adjusted and gender-adjusted population norms (0.81; p=0.01) reflecting the broader burden of mitochondrial diseases on families.</p><p><strong>Conclusion: </strong>With increasing use of genetic testing and genomic sequencing, as well as hope for gene therapies, health utility values will be necessary for economic evaluations of new interventions for mitochondrial disease. This paper shows the substantial impact on HRQoL of mitochondrial disease measured through utilities. The utility values from this paper can inform future economic evaluations for interventions for patients with mitochondrial disease. Further, the paper demonstrated that mitochondrial disease not only reduces the HRQoL of patients but also impacts the HRQoL of carers.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145181986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation.","authors":"Emily Mira Warshauer, Paul A Maier, Goran Runfeldt, Ignacia Fuentes, Maria José Escamez, Laura Valinotto, Monica Natale, Graciela Manzur, Nuria Illera, Marta Garcia, Marcela Del Rio, Angeles Mencia, Almudena Holguin, Fernando Larcher, Garrett Hellenthal, Adam R Brown, Liliana Consuegra, Carolina Rivera, Inês Nogueiro, Jean Tang, Anthony Oro, Peter Marinkovich, Francis Palisson, Matthias Titeux, Alain A Hovnanian, Eli Sprecher, Karl Skorecki, David Norris, Anna Bruckner, Igor Kogut, Ganna Bilousova, Dennis Roop","doi":"10.1136/jmg-2025-110967","DOIUrl":"https://doi.org/10.1136/jmg-2025-110967","url":null,"abstract":"<p><strong>Background: </strong>Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe blistering skin disorder caused by loss-of-function mutations in the type VII collagen gene (<i>COL7A1</i>). The <i>COL7A1</i> c.6527insC mutation is curiously prevalent among individuals with RDEB and is found worldwide in Europe and the Americas. Previous research has suggested the possibility of a Sephardic Jewish origin of the mutation; however, individuals with RDEB are not known to have predominant Jewish ancestry.</p><p><strong>Methods: </strong>In this study, a global cohort of individuals with RDEB with the c.6527insC founder mutation from Spain, France, Argentina, Chile, Colombia and the USA were investigated by autosomal genotyping, pairwise identical-by-descent matching and a local ancestry analysis. Age estimation analysis was performed to determine when Jewish founders introduced the c.6527insC mutation into Iberian and Native American populations (~900 CE and 1492 CE, respectively).</p><p><strong>Results: </strong>Sephardic ancestry was identified at the haplotype spanning the c.6527insC mutation in 85% of the individuals, despite mixed ancestry elsewhere in the genome and no known recent Sephardic ancestry. Identical-by-descent matching between this RDEB subpopulation and a known crypto-Jewish community in Belmonte, Portugal was also ascertained, providing support for crypto-Jewish ancestry in this RDEB subpopulation.</p><p><strong>Conclusion: </strong>The identification of this unique RDEB subpopulation unified by the single most prevalent c.6527insC mutation holds great potential to facilitate promising new RDEB therapies using CRISPR Cas 9 gene and base editing. The identification of a single guide RNA allowing efficient and safe editing of this variant would represent a unique drug to treat a large cohort of patients with the same founder mutation.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Six at Sixty. 'No gain, no pain': medical genetics taking Nav1.7 from target to pharmacy.","authors":"Pu Xia, Ran Mo, Linghan Hu, Yong Yang","doi":"10.1136/jmg-2025-111174","DOIUrl":"10.1136/jmg-2025-111174","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"654-657"},"PeriodicalIF":3.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145040344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}