European journal of medical genetics最新文献

{"title":"Evaluating Parental Satisfaction and Empowerment with Genetic Testing in the Neonatal Intensive Care Unit (NICU).","authors":"Sunu Kim, Horacio Osiovich, Sylvie Langlois, Alice Virani, Ye Shen, Alison M Elliott","doi":"10.1016/j.ejmg.2025.105014","DOIUrl":"https://doi.org/10.1016/j.ejmg.2025.105014","url":null,"abstract":"<p><p>Genetic disorders are highly represented in the neonatal intensive care unit (NICU). Genetic testing (in particular rapid genome-wide sequencing) has transformed the ability to diagnose and manage these infants. The NICU is a place of stress and overwhelm for parents and implementing genetic testing can pose additional challenges, including anxiety. There is a critical gap in knowledge related to parents' empowerment and satisfaction with the NICU experience for those undergoing genetic testing. The goal of this mixed-methods study was to identify the key contributing factors related to empowerment and areas for improvement in care of parents undergoing genetic testing in the NICU by using validated tools that have not been previously implemented in Canada. A demographic survey and validated online survey tools were distributed to eligible parents. Descriptive statistics and linear regression analysis were performed. We conducted semi-structured interviews to gain insight into the genetic testing experience. The transcribed interviews were analyzed using an interpretive description framework and thematic analysis. A total of 31 surveys and 17 interviews were completed. We have identified self-reported demographic predictors of decreased satisfaction and empowerment for parents, including high income, English-speaking, ethnicity, sex of the parent, prematurity of the newborn, and length of hospital stay. Emerging themes from interviews fall under the broad category of communication and include information, logistics, parental perspective, and support. Subthemes include expectations and delivery of information, attention to timing and organization, comprehensive support, and parental distress and expectations when ordering genetic testing. The findings suggest the need for systematic improvement of the current genetic testing process in NICUs.</p>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":" ","pages":"105014"},"PeriodicalIF":1.6,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial inheritance of 14q terminal deletion syndrome and review of the literature","authors":"Krista M. Vincent ,&nbsp;Bradley Prince ,&nbsp;Jean McGowan-Jordan ,&nbsp;Melissa T. Carter","doi":"10.1016/j.ejmg.2025.105015","DOIUrl":"10.1016/j.ejmg.2025.105015","url":null,"abstract":"<div><div>Terminal deletions of chromosome 14q are characterized by a spectrum of phenotypes that can include microcephaly, growth deficiency, intellectual disability, characteristic facial features, and various congenital anomalies. The rarity of this syndrome, together with the broad spectrum of phenotypes, has made genotype-phenotype correlations difficult. Herein, we describe a family with the core features of the condition and a heterozygous 3.7 Mb deletion at 14q32.32qter. To our knowledge, this is the first case of vertical transmission of a terminal 14q deletion. In addition to this family, we review 19 previously reported individuals. Additional descriptions of individuals with terminal 14q deletions will help to fully characterize the phenotypic spectrum and define the natural history of this condition.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"75 ","pages":"Article 105015"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature","authors":"Liselot van der Laan ,&nbsp;Lotte Kleinendorst ,&nbsp;Martin A. Haagmans ,&nbsp;Laura Roquas ,&nbsp;Jasper J. van der Smagt ,&nbsp;Klaas Koop ,&nbsp;Peter Henneman ,&nbsp;Mieke M. van Haelst","doi":"10.1016/j.ejmg.2025.105013","DOIUrl":"10.1016/j.ejmg.2025.105013","url":null,"abstract":"<div><div>16p11.2 triplication is a rare chromosomal disorder associated with developmental delay, behavioral abnormalities, and various dysmorphic features. Here, we present a case study of a four-year-old girl with 16p11.2 triplication, whose healthy father has a smaller 16p11.2 duplication that partially overlaps with that of the daughter. She has a global developmental delay, autism spectrum disorder, anxiety, and sensory processing issues, alongside dysmorphic features. Genetic analysis revealed triplication within the 16p11.2 duplication region. We used different technical approaches to pinpoint the exact genetic architecture of the triplication and to gain further functional insights. Using array-CGH and Fluorescence In Situ Hybridization (FISH), we detected the location of the triplication. We later sought to confirm this with Oxford Nanopore Technologies (ONT); however, detecting duplications and triplications proved to be challenging. Finally, RNA sequencing showed overexpression of genes within the triplication region, including <em>INO80E, PAGR1, SPN, KIF22, HIRIP3, TAOK2, and TMEM219</em>, some of which had been associated with neurodevelopmental disorders and/or increased body mass index by GWAS (1). Our findings contribute to the understanding of the phenotypic spectrum and molecular mechanisms of 16p11.2 triplication. Moreover, the challenges in detecting triplications using current sequencing methods highlight the need for improved diagnostic techniques.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"75 ","pages":"Article 105013"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143777222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report","authors":"Bertille Bonniaud ,&nbsp;Maxime Luu ,&nbsp;Coline Cormier ,&nbsp;Caroline Racine ,&nbsp;Aurélie Espitalier ,&nbsp;Charlotte Malbranche ,&nbsp;Adélaïde Rega ,&nbsp;Théo Gaumet ,&nbsp;Paul Kuentz ,&nbsp;Pierre Vabres ,&nbsp;Christel Thauvin-Robinet ,&nbsp;Marc Bardou ,&nbsp;Sébastien Gay ,&nbsp;Laurence Faivre ,&nbsp;Julian Delanne","doi":"10.1016/j.ejmg.2025.105012","DOIUrl":"10.1016/j.ejmg.2025.105012","url":null,"abstract":"<div><div>Postzygotic activating <em>MTOR</em> variants result in neurocutaneous mosaic phenotypes including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism (hypomelanosis of Ito), whereas germline activating variants cause Smith-Kinsgmore syndrome. The <em>MTOR</em> gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. As rapamycin downregulates the increased activity caused by the mosaic mTOR variant, it may result in improvement of clinical outcomes, as shown for refractory epilepsy in tuberous sclerosis, another genetic disease of the mTOR pathway. However, results of treatment have been reported in only three genotyped patients so far, one with pigmentary mosaicism, megalencephaly and epilepsy, and two with focal cortical dysplasia, with conflicting results. Here we report on a 12-year-old male patient with megalencephaly-pigmentary mosaicism and a mTOR mosaic gain-of-function variant (p.(Ser2413Ile)) in 23 % of affected skin cells, who received compassionate off-label sirolimus for severe behavioural disorder. Sirolimus was initiated at 1.3 mg twice a day with regular blood monitoring. After a 6-months period, no improvement was observed, neither on family environment-reported outcomes nor on neuropsychology scales, leading to treatment discontinuation. Despite physiopathological rationale, case reports have failed so far to suggest efficacy on the outcomes studied, which questioned the implementation of clinical trials.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"75 ","pages":"Article 105012"},"PeriodicalIF":1.6,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM","authors":"Britt A.E. Dhaenens ,&nbsp;Maxim Moinat ,&nbsp;Eva-Maria Didden ,&nbsp;Nadir Ammour ,&nbsp;Rianne Oostenbrink ,&nbsp;Peter Rijnbeek","doi":"10.1016/j.ejmg.2025.105011","DOIUrl":"10.1016/j.ejmg.2025.105011","url":null,"abstract":"<div><div>Neurofibromatosis type 1 (NF1) is a rare tumour predisposition syndrome. Optic pathway gliomas (NF1-related OPG) are a well-characterised tumour type. There is great need for tools that can efficiently identify patients with NF1-related OPG at hospitals. Computable phenotypes algorithms can be used to find patients with certain clinical features in an electronic database. We developed computable phenotype algorithms using the Observational Medical Outcome Partnership (OMOP) Common Data Model. We subsequently assessed if these algorithms could identify patients with NF1-related OPG in an electronic health records (EHR) derived database. We created phenotype algorithms based on diagnosis codes, visits, and radiologic procedures. These phenotypes were applied to the EHR-derived database of an academic hospital. To assess the performance of the phenotypes, we calculated the precision, recall, and F2 score against a list of known cases (<em>n</em> = 61), provided by a clinician. To evaluate the ability of the phenotypes to identify additional cases, we manually reviewed the predicted positives of each phenotype algorithm. The phenotype algorithm based on the diagnosis codes ‘Neurofibromatosis syndrome’ and ‘Neoplasm of optic nerve’ performed best (precision = 1.000, recall = 0.614, F2-score = 0.665). The phenotype ‘Neurofibromatosis syndrome and three or more Ophthalmology visits and one or more MRI of brain’ performed best of the phenotypes based on visits and radiologic procedures (precision = 0.489, recall = 0.511, F2-score = 0.507). Generally, increased precision came at the cost of a decrease in recall. Following review of the predicted positives of each phenotype, 27 additional cases were identified. OMOP computable phenotype algorithms successfully identified NF1-related OPG patients in an EHR-derived database. They provided swift insight into the number of NF1-related OPG cases and were able to identify additional cases, which were not included in the original list of known cases. Phenotype algorithms created with OMOP could be an invaluable tool to facilitate patient screening, especially in multi-centric trials for rare diseases.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"75 ","pages":"Article 105011"},"PeriodicalIF":1.6,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review","authors":"Imaan Amina Roomaney,&nbsp;Salma Kabbashi,&nbsp;Manogari Chetty","doi":"10.1016/j.ejmg.2025.105008","DOIUrl":"10.1016/j.ejmg.2025.105008","url":null,"abstract":"<div><h3>Introduction</h3><div>Enamel Renal Syndrome (ERS) (OMIM 204690) is a rare genetic condition characterised by a distinct oral profile and sometimes nephrocalcinosis. This autosomal recessive condition, caused by pathogenic variants in the <em>FAM20A</em> gene, is linked to ectopic mineralisation in tissues such as dental pulp, follicles, gingiva, and kidneys. Although the oral phenotype has been well-characterised, less common features have been described, highlighting possible gaps in the literature on the phenotypic variability of the condition.</div></div><div><h3>Methods</h3><div>This scoping review follows PRISMA-ScR guidelines and aimed to synthesise existing literature on ERS, focusing on clinical and radiographic features, oral histology, systemic manifestations, and molecular findings. A comprehensive search was conducted in multiple databases, with inclusion criteria broad enough to capture relevant studies under various nomenclatures. The screening process involved independent review and data extraction with a custom tool.</div></div><div><h3>Results</h3><div>The initial search yielded 430 references, supplemented by additional publications identified through Google Scholar and citation searching. After removing duplicates and resolving inter-rater discrepancies, 62 studies were included, encompassing a diverse global sample. Publications spanned from the first report in 1972 to recent studies in 2024. The included studies highlight the characteristic oral profile of ERS and less consistently reported renal manifestations<strong>.</strong> While the pathognomonic oral profile remains consistent, long-term studies are required to fully understand renal and systemic impacts. Current management strategies are patient-specific, with a need for standardised reporting and long-term follow-up to develop evidence-based guidelines. Until more comprehensive data is available, vigilant monitoring of kidney function in ERS patients remains essential.</div></div><div><h3>Conclusion</h3><div>This review confirms that ERS presents with a distinct oral and dental profile. However, inconsistencies in the reporting of craniofacial, renal, and other systemic features were noted. To improve patient care, further research is essential to better understand the systemic implications and long-term outcomes of ERS. This will support the development of evidence-based guidelines and foster a more holistic approach to managing the condition.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"75 ","pages":"Article 105008"},"PeriodicalIF":1.6,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolated congenital vertebral anomaly and Sprengel's deformity in a WBP11 pathogenic variant","authors":"Bo Kyung Shin ,&nbsp;Jaewon Kim ,&nbsp;Myung Shin Kim ,&nbsp;Dae-Hyun Jang","doi":"10.1016/j.ejmg.2025.105010","DOIUrl":"10.1016/j.ejmg.2025.105010","url":null,"abstract":"<div><div>The pathogenic variant of <em>WBP11</em> has been known as one of the various genetic causes of VACTERL syndrome. VACTERL syndrome is usually diagnosed with at least three clinical features of vertebral, heart, tracheal, esophageal, kidney, and limb anomalies. So far, only four <em>WBP11</em> pathogenic variants have been documented from 13 patients, first and latest described in 2020. In this clinical report, we present a patient with an isolated vertebral anomaly and Sprengel's deformity, carrying a pathogenic variant of <em>WBP11</em>, representing a distinctive case of patient that has never been described before. An eight-month-old boy with a 5°–10° head tilt to the right was referred to our institution and the cervical X-ray imaging showed the vertebral anomaly. Three-dimensional (3D) volume-rendered computed tomography (CT) of the cervical spine revealed the fusion state of the right C2 and C3 facet joints. And the right shoulder appeared to be raised and right scapula elevation was identified in the 3D chest CT. In addition, whole genome sequencing presented a <em>de novo</em> novel <em>WBP11</em> heterozygous pathogenic variant, with frameshift resulting in a loss of function. <em>WBP11</em> is a cell cycle-related pleiotropic gene that encodes a pre-messenger RNA splicing factor involved in centriole duplication. Pathogenic variants in <em>WBP11</em> are genetically implicated in the development of multiple congenital anomalies. Clinically, <em>WBP11</em> has been previously associated with VACTERL syndrome. In this report, we document clinical manifestations, including vertebral anomalies and Sprengel's deformity. The findings presented in this report indicate that haploinsufficiency of <em>WBP11</em>, resulting from a heterozygous pathogenic variant, may give rise to a more diverse array of clinical phenotypes than previously documented.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"75 ","pages":"Article 105010"},"PeriodicalIF":1.6,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paracentric inversion disrupting the SHANK2 gene","authors":"Jolien Huyghebaert ,&nbsp;Bregje Christiaenssen ,&nbsp;Marjan De Rademaeker ,&nbsp;Jenneke Van den Ende ,&nbsp;Geert Vandeweyer ,&nbsp;R. Frank Kooy ,&nbsp;Ligia Mateiu ,&nbsp;Dale Annear","doi":"10.1016/j.ejmg.2025.105009","DOIUrl":"10.1016/j.ejmg.2025.105009","url":null,"abstract":"<div><div>In this study, we employed a multifaceted approach combining short-read whole genome sequencing (WGS) analyzed using Delly, cytogenomics using Bionano technology, and Sanger sequencing to identify the breakpoints of a balanced de novo paracentric inversion on chromosome 11, spanning approximately 64 Mb (inv11q13.3; q25). This inversion was discovered in a girl who presented with mild intellectual disability (ID), speech and language delays, a delay in motor development and attention deficit hyperactivity disorder (ADHD). Detailed analysis of the breakpoints revealed the disruption of two genes; <em>SHANK2</em>, which is critical for encoding a postsynaptic scaffolding protein at glutamatergic synapses in the brain, and <em>LINC02714</em>, a long non-coding RNA (lncRNA). Although <em>SHANK2</em> is not listed in the OMIM database as a causative gene to this date, literature reports at least 21 cases where (likely) pathogenic variants in <em>SHANK2</em> have been identified in patients with neurodevelopmental disorders (NDDs). A loss of function variant of the <em>SHANK2</em> gene is in line with the clinical presentation of this patient. No additional genetic variants that could explain her phenotype were identified. In conclusion, by combining WGS, cytogenomics and Sanger sequencing techniques, we identified the exact breakpoints of a large inversion providing a likely molecular diagnosis for our patient.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"75 ","pages":"Article 105009"},"PeriodicalIF":1.6,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Public attitudes towards disclosure of genetic risk in the family: A survey in a sample of the Portuguese general population","authors":"Iara Ribeiro ,&nbsp;João Tavares ,&nbsp;Liliana Sousa ,&nbsp;Álvaro Mendes","doi":"10.1016/j.ejmg.2025.105007","DOIUrl":"10.1016/j.ejmg.2025.105007","url":null,"abstract":"<div><div>Genetic and genomic testing often have implications not only for the individual tested but also for their genetic relatives. This study aims to characterize public attitudes toward the familial disclosure of genetic risks. An online survey was completed by a sample of the Portuguese general population (n = 1034), assessing preferences for genetic testing, the receipt of genetic risk information, and the sharing of such information with family members. Results reveal a strong preference among respondents for receiving information on genetic risks and undergoing genetic testing. There was also ample agreement that family members should be informed about the risk of developing an inherited condition and undergo genetic testing. Additionally, participants expressed a preference for healthcare professionals to inform both themselves and their family members of genetic risks. Our findings suggest broad acceptance of the possibility for healthcare-mediated disclosure of genetic risks to family members. However, this approach to disclosure warrants further investigation, as direct contact with patients' relatives remains a contentious issue. A broad discussion is needed on how to best cascade relevant genetic information to patients' family members, taking into account the perspectives of all key stakeholders.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"74 ","pages":"Article 105007"},"PeriodicalIF":1.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143550261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Short-term efficacy of tofacitinib, a JAK inhibitor, in IFIH1-related Aicardi-Goutières syndrome","authors":"Ling Hou,&nbsp;Peng Zhou,&nbsp;Yue Du,&nbsp;Xiuli Wang,&nbsp;Chengguang Zhao","doi":"10.1016/j.ejmg.2025.105006","DOIUrl":"10.1016/j.ejmg.2025.105006","url":null,"abstract":"<div><div>Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous type-I interferonopathy presenting in infancy with intracranial calcifications, white matter lesions, and brain atrophy. AGS7, caused by gain-of-function (GOF) mutations in the <em>IFIH1</em> gene, triggers excessive type-I interferon production, leading to autoimmune responses. We describe an 18-year-old female diagnosed with AGS7 due to a somatic GOF mutation in <em>IFIH1</em>. In 2014, she presented with multiple joint swelling, facial rash, and hair loss, and received a diagnosis of juvenile idiopathic arthritis and systemic lupus erythematosus. Traditional immunosuppressants were administered, but provided little benefit. Genetic testing in 2023 revealed a GOF variant (p.R720G) in <em>IFIH1</em>. Given the link between <em>IFIH1</em> variants and the Janus kinase (JAK)-signal transducer and activator of transcription (STAT) pathway, we administered tofacitinib (a JAK inhibitor) and oral methylprednisolone, with tapering of the traditional immunosuppressants. After nearly one year, the patient showed no significant disease activity and normal hair growth, with no notable changes in thyroid function. Although treatment of AGS remains challenging, this case suggests tofacitinib can successfully manage AGS7 symptoms. More clinical studies are needed to verify the long-term safety and efficacy of tofacitinib.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"75 ","pages":"Article 105006"},"PeriodicalIF":1.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143563633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}