Journal of Medical Genetics最新文献

{"title":"Biallelic <i>SIDT2</i> loss-of-function in a child with cerebellar ataxia and lysosomal dysfunction mimics impairment of <i>SIDT2</i> in mice.","authors":"Tan Nguyen, Grace Yoon, Blake R C Smith, Martine Tétreault, Jeiwook Chae, Sean Massey, Simranpreet Kaur, John Christodoulou, Craig P Hunter, Ken C Pang","doi":"10.1136/jmg-2025-110654","DOIUrl":"10.1136/jmg-2025-110654","url":null,"abstract":"<p><p>SIDT2 (Systemic Interference Deficient 1 Transmembrane Family Member 2) is a lysosomal membrane protein involved in RNA degradation via RNAutophagy. While animal models have indicated a link between SIDT2 deficiency and lysosomal storage disorders, no human cases have been reported. Here, we report a child with biallelic <i>SIDT2</i> missense variants (p.Arg529Trp, p.Arg678Trp), who developed progressive neurological decline with cerebellar atrophy and Parkinsonian features. Functional studies revealed that the affected individual's variants disrupted the ability of SIDT2 to interact with RNA. Fibroblasts from the affected individual showed impaired autophagy, characterised by abnormal accumulation of autophagy markers. In mouse models, Sidt2 was found to be highly expressed in the brain, particularly in the hippocampus and cerebellum. Sidt2 loss-of-function in mice resulted in not only impaired autophagy in the brain but also neurological dysfunction, including motor incoordination and eventual seizures. These findings suggest that SIDT2 deficiency contributes to both autophagic dysfunction and neurodegenerative processes, providing insight into a potential role in human neurological disease.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"592-599"},"PeriodicalIF":3.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336688","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":"Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.","authors":"Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, Dominique Bonneau, Frédéric Rouleau, Ghislaine Plessis, Aline Vincent, Fabien Labombarda, Pascale Maragnes, Julian Delanne, Matthias Muller, Christine Coubes, Charlene Bredy, Laurent Gouya, Sylvie Odent, Adeline Basquin, Sophie Dupuis-Girod, Martine Barthelet, Emmanuelle Ginglinger, Bruno Delobel, Guy Vaksmann, Jean-Luc Alessandri, Louis André Arsac, Edouard Thomas, Sophie Julia, Bertrand Chesneau, Yves Dulac, Bert Callewaert, Bart Loeys, Maxim Vaerle, Leonie A Menke, Maarten Groenink, Lesley Ades, Maria Juliana Ballesta-Martinez, Alan L Shanske, Sigrid Tinschert, Petra Gehle, Christel Thauvin-Robinet, Jean-Christophe Eicher, Sylvie Falcon-Eicher, Catherine Boileau, Christine Binquet, Nadine Hanna, Laurence Faivre","doi":"10.1136/jmg-2024-110341","DOIUrl":"10.1136/jmg-2024-110341","url":null,"abstract":"<p><strong>Background: </strong>Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 57 known patients with SGS described in the literature, making it difficult to determine their prevalence and characteristics.</p><p><strong>Methods: </strong>We reviewed the medical records of an international cohort of 29 patients, with a particular focus on cardiovascular features. Data were compared with those of MFS.</p><p><strong>Results: </strong>The sex ratio was 1.9 and median age was 23 years (range: 4-54). 13 patients (44.8%) had mitral regurgitation (MR), 11 (37.9%) had a thoracic aortic aneurysm (TAA) and 9 (31.1%) had aortic regurgitation (AR). No cases of aortic dissection were reported. None had beta-blockers as a primary prevention of aortic events. The Kaplan-Meier method revealed a 30 years risk of 47%, 33% and 22% for occurrence of MR, TAA and AR, respectively. A statistically significant association was found between variants in the Dachshund Homology Domain and the risk of aortic aneurysm (11/20 vs 0/9, p=0.036).</p><p><strong>Conclusion: </strong>Patients with SGS also significantly have cardiovascular manifestations, encouraging the implementation of a follow-up and preventive cardiovascular treatment identical to that of MFS.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"600-606"},"PeriodicalIF":3.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144497351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel founder variant in the S-antigen visual arrestin gene <i>SAG</i> is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese.","authors":"Mathieu Quinodoz, Yixin Lai, Rachael Wei Chao Tang, Hwee Goon Tay, Tien-En Tan, Saadia Z Farooqui, Choi Mun Chan, Ranjana S Mathur, Carlo Rivolta, Beau J Fenner","doi":"10.1136/jmg-2025-110775","DOIUrl":"10.1136/jmg-2025-110775","url":null,"abstract":"<p><strong>Purpose: </strong>To characterise a novel founder variant in the <i>SAG</i> gene causing autosomal dominant retinitis pigmentosa (AD-RP) in Singaporean Chinese individuals.</p><p><strong>Design: </strong>Single-centre prospective observational cohort study.</p><p><strong>Methods: </strong>Unrelated probands with AD-RP and their affected relatives were recruited from a tertiary eye hospital in Singapore. Genetic analysis was performed using whole exome sequencing and targeted gene panel testing. Clinical phenotyping included best-corrected visual acuity (BCVA), multimodal imaging and visual field assessments. In silico analyses were conducted to assess variant pathogenicity and conservation.</p><p><strong>Results: </strong>We identified a novel heterozygous <i>SAG</i> variant, NM_000541.5:c.442G>A (p.Gly148Arg), in five unrelated families of Southern Chinese descent. A shared haplotype of 3.2 Mb among four families suggested a founder effect. Affected individuals presented with mid-life onset nyctalopia (median age 44 years), progressive BCVA loss after age 40 and severe visual field constriction by the fifth decade. Fundus imaging revealed diffuse retinal pigment epithelium atrophy and perivascular pigmentation. In silico predictions suggest that p.Gly148Arg disrupts conformational changes that are required for rhodopsin modulation.</p><p><strong>Conclusion: </strong>The <i>SAG</i> c.442G>A (p.Gly148Arg) variant represents the first reported <i>SAG</i>-related AD-RP founder variant in ethnic Chinese individuals. Its phenotypic resemblance to the previously described <i>SAG</i> c.440G>T (p.Cys147Phe) variant underscores a common disease mechanism. These findings expand the genetic landscape of AD-RP and highlight <i>SAG</i> as a potential therapeutic target.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"573-580"},"PeriodicalIF":3.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216086","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":"Identifying the unmet needs of patients with neurofibromatosis type 1 in Singapore.","authors":"Agnes Lim, Zi Yang Chua, Celestine Loh, Priyadharshini D/O Suresh, Jeanette Yuen, Manasadevi Kartikeyan, Zhang Zewen, Jianbang Chiang, Mark Jean Aan Koh, Nikki Wen Yan Fong, Ee Shien Tan, Joanne Ngeow","doi":"10.1136/jmg-2025-110702","DOIUrl":"10.1136/jmg-2025-110702","url":null,"abstract":"<p><strong>Background: </strong>Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with tumour predisposition, and patients often face neuropsychiatric and psychosocial challenges. This study aimed to identify unmet needs of NF1 patients in Singapore to enhance patient care and service delivery.</p><p><strong>Methods: </strong>20 patients who were clinically or genetically diagnosed with NF1 were recruited for in-depth interviews. Interviews were transcribed verbatim and analysed using thematic analysis.</p><p><strong>Results: </strong>Five themes emerged from thematic analysis: (1) NF1 trajectory begins from childhood; (2) Coming to terms with body and self; (3) Perceived acceptance drives disclosure patterns; (4) Need for specialised NF1 care; (5) Building local awareness and connections. Six key unmet needs were identified, namely the need for: (1) Optimised multidisciplinary NF1 care; (2) Management of neurological symptoms; (3) Management of cutaneous lesions; (4) Financial coverage for NF1; (5) Early NF1 screening; (6) Local awareness and support groups.</p><p><strong>Conclusion: </strong>Addressing these needs can lead to actionable steps for improving care and quality of life for NF1 patients in Singapore.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"551-558"},"PeriodicalIF":3.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225714","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":"Integration of genetic counselling into a multidisciplinary urological oncology programme enhances access and detection of hereditary prostate cancer syndromes.","authors":"Lindsey Byrne, Mckenna G Lewis, Shihua Wang, Steven K Clinton","doi":"10.1136/jmg-2025-110755","DOIUrl":"10.1136/jmg-2025-110755","url":null,"abstract":"<p><strong>Background: </strong>Advances in prostate cancer (PCa) research have revealed dozens of genetic markers for inherited risk. Germline genetic testing (GGT) enhances patient care by guiding therapeutic decisions and promoting screening and surveillance for men and their families. We evaluated the impact of embedding a genitourinary (GU) specialised genetic counsellor (GC) into a multidisciplinary GU clinic on counselling referrals, genetic risk assessment and GGT uptake for men with PCa.</p><p><strong>Methods: </strong>A chart review of 2593 individuals with PCa from 2016 to 2022 was performed. Categorical data were analysed by the χ² test and predictors were identified by logistic regression.</p><p><strong>Results: </strong>Prior to the integration of a GU GC (2016-2018), 39 men were referred for genetic counselling (2%), which increased to 368 men (14%) during 2019-2022. During the pre-embedment period, GGT was completed in 9 out of 39 (23%) referrals, whereas GGT was completed in 235 out of 368 referrals (64%) in the postembedment period. Individuals with a younger age (p<0.0001), family history of PCa (p<0.0001), higher Gleason Score (p<0.0001), more advanced clinical stage (p<0.0001), metastatic disease (p<0.0001), and meeting National Comprehensive Cancer Network guidelines for prostate GGT (p<0.0001) were more likely to be referred. Forty-one tested positive for one or more pathogenic or likely pathogenic variants (17%).</p><p><strong>Conclusions: </strong>The integration of a GC dramatically increased referrals, and a greater proportion of individuals proceeded with GGT. Future studies will analyse barriers and factors promoting referrals so that individuals and their families benefit from evidence-based treatment and early detection and prevention options.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"566-572"},"PeriodicalIF":3.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325991","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":"Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.","authors":"Caroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, Nicolas Chatron, Marion Beaumont, Nicolas Reynaud, Kevin Uguen, Flavie Diguet, Audrey Labalme, Claire Bardel, Tuomo Mantere, Vérane Bard, Andreea Apetrei, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Christin-Maître, Francoise Devillard, Melanie Fradin, Bertrand Isidor, Anna Lokchine, Sylvie Jaillard, Robert Olaso, Massimiliano Rossi, Stéphanie Valence, Jean-François Deleuze, Alexander Hoischen, Jean-Pierre Siffroi, Damien Sanlaville","doi":"10.1136/jmg-2025-110838","DOIUrl":"https://doi.org/10.1136/jmg-2025-110838","url":null,"abstract":"<p><strong>Background: </strong>Short-read genome sequencing (sr-GS) affords efficient and accurate characterisation of apparently balanced chromosomal rearrangement (ABCR) breakpoints except in 9%-11% of cases that remain undetectable.</p><p><strong>Methods: </strong>Among 117 ABCR that we studied in patients with abnormal phenotype, 14 (11.9%) could not be detected by our current strategy including sr-GS, alignment against the GRCh38 reference genome and structural variant (SV) detection using Breakdancer V.1.4.5. These were all reciprocal translocations, 10 of which implicated constitutive heterochromatin, acrocentric short arms or pericentromeric regions. We re-aligned the sequencing data against the T2T-CHM13 V.2.0 reference genome and re-analysed them using five other SV callers (DELLY, GRIDSS, LUMPY, Manta and SvABA). In addition, 11 ABCRs were further characterised using FISH, linked-read sequencing, long-read sequencing or optical genome mapping, either isolated or combined.</p><p><strong>Results: </strong>We were able to characterise the breakpoints at the bp level for 12 translocations and identify specific breakpoint patterns using Integrative Genome Viewer (IGV). In each translocation, at least one breakpoint involved highly repetitive elements such as alpha-satellites, segmental duplications, satellite repeats or other poorly mapped regions. For six out of 12 patients, one of the breakpoints could explain the phenotype either by gene disruption (<i>CAMTA1, DYRK1A</i>, <i>NLGN4X</i>) or position effect (<i>BMP2</i>, <i>DIAPH2, SIX3</i>).</p><p><strong>Conclusion: </strong>Failure of sr-GS is due to highly repetitive genomic regions at SV breakpoints, either absent from the reference genome or not attributed to a unique position. The resolution of ABCRs is essential to patients' care since it allowed us to conclude to a pathogenic variant in 50% of patients.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957303","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":"Associations between <i>ATM</i> c.7271T>G and cancer risk: analysis of Breast Cancer Association Consortium and UK Biobank data.","authors":"Toqir K Mukhtar, Leila Dorling, Naomi Wilcox, Joe Dennis, Xin Yang, Melissa Southey, Marc Tischkowitz, Douglas F Easton","doi":"10.1136/jmg-2025-110769","DOIUrl":"10.1136/jmg-2025-110769","url":null,"abstract":"<p><p>Previous studies have suggested the missense variant NM_000051.4(ATM):c.7271T>G is associated with a high risk of breast cancer (BC), but the magnitude of the association, and the associations with other cancer types, are unclear. Cancer associations were evaluated using sequence data linked to cancer registration data (348 488 participants, 56 640 cancer cases) from UK Biobank (UKB), and targeted sequence or genome-wide array data (126 428 cases, 115 495 controls) from the Breast Cancer Association Consortium (BCAC). The magnitudes of the association of c.7271T>G with invasive BC were similar using UKB (relative risk (RR): 4.57, 95% CI: 2.25 to 9.30, p=2.7×10^-5) and BCAC (OR: 4.11, 2.05 to 8.26, p=6.9×10^-5). In UKB, c.7271T>G was associated with increased risks of prostate cancer (4.84, 2.27 to 10.33, p=4.54×10^-5), and any other cancer (males 2.79, 1.33 to 5.85, p=0.0066; females 3.15, 1.49 to 6.63, p=0.0026). Estimated cumulative risks of all cancers to age 80 years were 87% in males (prostate cancer 43%) and 84% in females (BC 43%). The estimated RRs are consistent with c.7271T>G being associated with a risk of more than twice that for Ataxia-Telangiectasia Mutated protein-truncating variants, for all cancers. These data justify specific management of c.7271T>G carriers.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"547-550"},"PeriodicalIF":3.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss.","authors":"Sijun Li, Qi Feng, Lingyun Mei, Shuai Zhang, Jian Song, Yong Feng, Xuewen Wu","doi":"10.1136/jmg-2024-110573","DOIUrl":"10.1136/jmg-2024-110573","url":null,"abstract":"<p><strong>Background: </strong>The γ-actin protein, encoded by the <i>ACTG1</i> gene, is a critical cytoskeletal component in non-muscle cells. Mutations in <i>ACTG1</i> are associated with autosomal dominant, progressive sensorineural hearing loss (HL), but clinical heterogeneity remains poorly understood.</p><p><strong>Methods: </strong>We identified a novel missense variant, c.981C>G (p.Ile327Met; I327M), in a Chinese family with hereditary HL through whole exome sequencing. Functional analyses were performed to assess <i>ACTG1</i> mRNA and protein expression, F-actin organisation and subcellular localisation. Structural modelling and electrostatic analysis were used to predict the impact of the I327M substitution. Additionally, we reviewed 35 published <i>ACTG1</i>-related families involving 82 patients to explore genotype-phenotype correlations.</p><p><strong>Results: </strong>The I327M variant resulted in significantly reduced <i>ACTG1</i> transcript and protein levels, accompanied by disrupted F-actin integrity in patient-derived peripheral blood mononuclear cells. Structural modelling suggested that the variant alters the electrostatic environment near the tropomyosin-binding interface, potentially compromising filament stability. Literature review and comparative analysis revealed that variants located within actin-binding protein (ABP) interaction sites were associated with an earlier onset and more severe progression of HL compared with those located outside ABP-binding domains.</p><p><strong>Conclusion: </strong>The c.981C>G (p.Ile327Met) variant contributes to HL pathogenesis through dual mechanisms involving impaired gene expression and filament destabilisation. This study highlights the clinical relevance of variant location relative to ABP binding regions and provides new insights into genotype-phenotype relationships in <i>ACTG1</i>-associated HL.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"581-591"},"PeriodicalIF":3.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317082","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":"UK clinical practice guidelines for the management of patients with constitutional <i>POT1</i> pathogenic variants.","authors":"Olga Tsoulaki, D Gareth Evans, Khushboo Sinha, Neil Rajan, Farah Bakr, Helen Hatcher, Andrea Napolitano, Elena Finn, Sunil Iyengar, Aslam Sohaib, Timothy J Sadler, Claire Forde, Emma Roisin Woodward, Terri P McVeigh, Marc Tischkowitz, Fiona Lalloo, Helen Hanson","doi":"10.1136/jmg-2025-110638","DOIUrl":"10.1136/jmg-2025-110638","url":null,"abstract":"<p><p>Constitutional or germline pathogenic variants (GPVs) in <i>protection of telomeres 1 (POT1</i>) are associated with a variety of tumours resulting in the recognition of POT1-tumour predisposition syndrome (POT1-TPDS). These tumours may include cutaneous melanoma, angiosarcoma, haematological malignancy and brain tumours. Due to the rarity of <i>POT1</i> GPVs and limited available data, the overall lifetime cancer risks for individuals with POT1-TPDS are unclear. Furthermore, there is scant evidence to support the role of surveillance in early cancer detection in this patient group. A recent international publication suggested a surveillance protocol similar to that used in Li-Fraumeni Syndrome (LFS) could be offered to <i>POT1</i> pathogenic variant carriers, particularly where there are LFS-like features. However, current evidence for POT1-TPDS is not supportive of an equivalent lifetime cancer risk. Given the inclusion of <i>POT1</i> in the National Test Directory in England and the need for UK-based guidance, an expert group undertook a literature review to assess the phenotypic spectrum of POT1-TPDS and to provide lifetime risk estimates of <i>POT1</i>-associated cancers. The available evidence was shared with a small working group of experts that included clinical geneticists, dermatologists, sarcoma specialists, haematologists and radiologists to cover all aspects of the cancers most commonly associated with POT1-TPDS. Following structured expert group discussions, we achieved consensus on best practice recommendations for a POT1-TPDS UK management protocol.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"559-565"},"PeriodicalIF":3.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>Correction 2:</i> A common <i>SLC26A4</i>-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.","authors":"","doi":"10.1136/jmedgenet-2017-104721corr2","DOIUrl":"10.1136/jmedgenet-2017-104721corr2","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"607"},"PeriodicalIF":3.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9814828","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}