Journal of Medical Genetics最新文献

{"title":"Inefficiencies in precision medicine: can genetic counsellors (GC) be the solution? The experience from the first GC-led cancer genetics service in Asia.","authors":"Jeanette Yuen, Shao-Tzu Li, Eliza Kate Courtney, Manasadevi Karthikeyan, Tasmyn Scriven, Nur Diana Binte Ishak, Hui Xuan Goh, Tiffany Lim, Zewen Zhang, Jianbang Chiang, Ravindran Kanesvaran, Rebecca Dent, Joanne Ngeow","doi":"10.1136/jmg-2025-110995","DOIUrl":"https://doi.org/10.1136/jmg-2025-110995","url":null,"abstract":"<p><strong>Purpose: </strong>The utility of genetic testing (GT) to guide cancer treatment, risk management and prevention has driven the demand for cancer genetic services. The global shortage of genetic counsellors (GCs) has led to the <i>mainstreaming</i> model. We evaluate the outcomes of the first GC-led service in Asia as a potential model for mainstreaming.</p><p><strong>Methods: </strong>A retrospective review of patients managed by the service from 2013 to 2023 was conducted. Output data relevant to patient consultations, GT uptake and pathogenic variant carriers identified were extracted. A progress chart outlines the efforts made in addressing barriers, improving uptake and service delivery.</p><p><strong>Results: </strong>Demand for GT has increased 18-fold. Uptake grew from 27% to an average of 81% from 2020, with no misconduct recorded. Carrier detection rate rose from 16% to 19-25% from 2015. The cost of GT has reduced significantly. Referral pathways for common hereditary cancer predisposition syndromes have been implemented. Support group events are held annually for carriers.</p><p><strong>Conclusion: </strong>Our findings highlight the feasibility and success of a GC-led mainstreaming model that is safe and scalable. GCs are more time and cost-efficient than doctors in meeting GT demands while supporting carriers psychosocially. Expanding the GC workforce should be a priority in meeting the global demand for GT.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145000772","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":"Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes.","authors":"Schaida Schirwani, Sylvia Ghattas, Nicholas Wilson, Samantha Hunt, Alison Callaway, Lucy Side, Jessica Bate","doi":"10.1136/jmg-2025-110820","DOIUrl":"https://doi.org/10.1136/jmg-2025-110820","url":null,"abstract":"<p><p>Li-Fraumeni syndrome and Birt-Hogg-Dubé syndrome are distinct cancer predisposition syndromes caused by germline pathogenic variants (GPVs) in TP53 and FLCN, respectively. Multilocus inherited neoplasia alleles syndrome (MINAS) describes the co-occurrence of GPVs in two or more cancer predisposition genes. We present a unique case of a boy aged 16 years with multiple, very early onset atypical cutaneous fibrous histiocytomas (ACFHs), diagnosed with MINAS due to de novo TP53 and paternally inherited FLCN GPVs. This case is the first reported association of ACFH with germline TP53 and FLCN pathogenic variants. This paper highlights the importance of considering MINAS in patients with unusual tumour presentations. We discuss the clinical, histopathological and genetic findings, emphasising the need for comprehensive genetic testing and personalised surveillance in such cases.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144992656","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":"Long-term efficacy of migalastat in females with Fabry disease.","authors":"Staci Kallish, Antonia Camporeale, Robert J Hopkin, Ana Jovanovic, Peter Nordbeck, Biliana O Veleva-Rotse, Eva Krusinska, Roser Torra","doi":"10.1136/jmg-2024-110596","DOIUrl":"https://doi.org/10.1136/jmg-2024-110596","url":null,"abstract":"<p><strong>Background: </strong>Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to <i>GLA</i> variants. Females with Fabry disease often experience diagnostic delays and an underappreciated disease burden owing to their variable disease presentation and progression.</p><p><strong>Methods: </strong>We conducted a <i>post hoc</i> analysis of all females from the clinical studies FACETS (NCT00925301) and ATTRACT (NCT01218659) and their open-label extensions, assessing baseline characteristics and long-term efficacy of migalastat regarding cardiac and renal function and Fabry-associated clinical events (FACEs).</p><p><strong>Results: </strong>Overall, 60 females had a median migalastat exposure of 5.1 years. At baseline, the median age was 47 years with multiorgan involvement in 70.0% of females (≥2 organ systems: renal, cardiac, central nervous system, peripheral nervous system and gastrointestinal). At baseline, 21.7% of females had left ventricular hypertrophy (LVH). In multiorgan involvement and LVH subgroups, the median baseline estimated glomerular filtration rate (eGFR) was in chronic kidney disease stage 2. Annualised rate of change in left ventricular mass index remained below 1 g/m²/year regardless of LVH or eGFR category at baseline. Mean (SD) eGFR annualised change was -1.1 (2.8) mL/min/1.73 m² overall. Ten FACEs were reported in eight females, seven of whom had prior events. Seven FACEs were cardiac; the remaining three were cerebrovascular (all transient ischaemic attacks). The incidence of renal, cardiac and cerebrovascular events was 0, 24.9 and 10.7 events per 1000 patient-years, respectively.</p><p><strong>Conclusion: </strong>These data show that females with Fabry disease experience considerable disease severity and burden and support the long-term efficacy of migalastat for the treatment of females.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957368","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":"Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants.","authors":"Laurence Pacot, Marinus Blok, Dominique Vidaud, Laura Fertitta, Ingrid Laurendeau, Audrey Coustier, Theodora Maillard, Cécile Barbance, Djihad Hadjadj, Manuela Ye, Dominique Lallemand, Salah Ferkal, Benoit Funalot, Ariane Lunati-Rozie, Bérénice Hebrard, Rakia Bhouri, Liesbeth Spruijt, Didier Bessis, David Geneviève, Vivian Vernimmen, Martinus P G Broen, Sabine Sigaudy, Sylvie Odent, Léna Damaj, Chloé Quélin, Laurent Pasquier, Valérie Layet, Brigitte Gilbert-Dussardier, Gaël Nicolas, Anne-Marie Guerrot, Bruno Leheup, Anne-Claire Bursztejn, Florence Petit, Odile Boute-Bénéjean, Yline Capri, Anne Guimier, Stanislas Lyonnet, Genevieve Baujat, Emmanuelle Bourrat, Bertrand Isidor, Mathilde Nizon, Sébastien Barbarot, Annick Toutain, Sophie Blesson, Julien Van-Gils, Fanny Morice-Picard, Séverine Audebert-Bellanger, Juliette Mazereeuw-Hautier, Alban Ziegler, Yves Alembik, Juliette Piard, Elise Brischoux-Boucher, Léa Guerrini-Rousseau, Julia Morera, Véronique Paquis-Flucklinger, Bruno Delobel, Jean-Luc Alessandri, Béatrice Parfait, Pierre Wolkenstein, Eric Pasmant","doi":"10.1136/jmg-2025-110783","DOIUrl":"10.1136/jmg-2025-110783","url":null,"abstract":"<p><strong>Background: </strong>Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders. NF1 is caused by dominant loss-of-function pathogenic variants (PVs) of the tumour-suppressor gene <i>NF1</i>, which encodes neurofibromin, a negative regulator of rat sarcoma proteins. NF1 is an autosomal dominant disorder with complete penetrance, but a highly variable expression. Identification of genotype-phenotype correlations is challenging because of the wide clinical variability, the progressive nature of the disorder and the extreme diversity of the mutation spectrum. Only a few <i>NF1</i> point variants have been associated with a specific phenotype in NF1 patients.</p><p><strong>Methods: </strong>We investigated a large, well-phenotyped NF1 cohort.</p><p><strong>Results: </strong>We report analyses of genotype-phenotype correlations in 112 NF1 patients with specific <i>NF1</i> point variants: p.Arg1809 missense variants were associated with a mild form of NF1 (n=24), while a more severe phenotype was associated with codons 844-848 (n=27), p.Arg1276 (n=25) and p.Lys1423 (n=35) missense variants. We describe a new correlation for p.Arg1204 missense variants (n=11), with no neurofibroma observed in patients. Functional studies will be critical for drawing conclusions on the potential hypomorphic or dominant-negative effects of these variants.</p><p><strong>Conclusion: </strong>The current data confirms several genotype-phenotype correlations in NF1, which may be relevant to the management and surveillance of NF1 patients with specific <i>NF1</i> PVs.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144784537","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":"<i>APC</i> I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites.","authors":"Sophie Allen, Charlie F Rowlands, Andrew Latchford, Clare Turnbull, Laura Valle","doi":"10.1136/jmg-2025-110911","DOIUrl":"https://doi.org/10.1136/jmg-2025-110911","url":null,"abstract":"<p><strong>Background: </strong><i>APC</i> c.3920T>A; p.Ile1307Lys (I1307K), prevalent in individuals of Ashkenazi Jewish (AJ) origin, has been associated with a modestly increased colorectal cancer (CRC) risk. Clinical recommendations for I1307K heterozygotes vary across countries and expert groups, reflecting differences in population frequencies, modest risk estimates and limited data in non-AJ individuals.</p><p><strong>Methods: </strong>We analysed UK Biobank data comprising 466 315 individuals (8944 with CRC), using genomic analysis to classify AJ and non-AJ ancestries.</p><p><strong>Results: </strong>I1307K was identified in 7.1% of AJ and 0.08% of non-AJ white participants. No significant association with CRC was observed in AJ (OR: 0.71; 95% CI: 0.17 to 2.95) or non-AJ white individuals (OR: 1.05; 95% CI: 0.50 to 2.22). The previously established OR of 1.7-1.8 for AJ individuals lies within our 95% CI, indicating underpowered results due to limited CRC cases. No significant associations were detected for other cancers. Unbiased, adequately powered CRC case-control studies in non-AJ populations would require cohorts far larger than current resources for feasible analysis.</p><p><strong>Conclusion: </strong>Clinical actionability of I1307K should prioritise risk stratification based on overall CRC risk and ancestry-dependent variant detection rates. However, management strategies need not differ by ancestry once a carrier is identified, as the biological impact of I1307K should be consistent across populations.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957463","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":"Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.","authors":"Ritu B Aul, Karen Elizabeth Canales, Isabelle De Bie, Anne-Marie Laberge, Sylvie Langlois, Tanya N Nelson, Sakina Walji, Andrea C Yu, Joanna Lazier","doi":"10.1136/jmg-2025-110871","DOIUrl":"https://doi.org/10.1136/jmg-2025-110871","url":null,"abstract":"<p><strong>Purpose and scope: </strong>The aim of this position statement is to provide recommendations aimed at Canadian reproductive care clinicians and genetics professionals regarding the use of reproductive carrier screening for autosomal recessive and X-linked recessive conditions.</p><p><strong>Methods of statement development: </strong>A multidisciplinary expert group was assembled to review the existing literature on reproductive carrier screening for autosomal recessive and X-linked recessive conditions and make recommendations relevant to the Canadian context. The statement was circulated for comment to the membership of the Canadian College of Medical Geneticists (CCMG) and Canadian Association of Genetic Counsellors (CAGC), and multiple family physician reviewers. Feedback from these groups was incorporated, and the final position statement was approved by the CCMG Board of Directors on 5 December 2024 and the CAGC Board of Directors on 14 April 2025.</p><p><strong>Results and conclusions: </strong>Routinely offered pan-ethnic reproductive carrier screening via a provincial or territorial programme is recommended for a limited panel of relatively common and severe childhood onset genetic conditions, based on Canadian experience with ethnicity-based testing: cystic fibrosis, fragile X syndrome, spinal muscular atrophy, haemoglobinopathies and founder mutations for Tay-Sachs disease, Canavan disease and familial dysautonomia. Provincial/territorial programmes must be developed to provide oversight, ensure appropriate resourcing and manage education and roll-out. Maintaining regional ethnicity-based screening programmes is also recommended, where relevant. Publicly funded population-level expanded carrier screening is not recommended at this time.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957337","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":"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}