European journal of medical genetics最新文献

{"title":"Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss.","authors":"Sacha Laurent, Anne Vannier, Corinne Gehrig, Marc Abramowicz, Ariane Paoloni-Giacobino, Hélène Cao Van, Michel Guipponi","doi":"10.1016/j.ejmg.2024.104986","DOIUrl":"10.1016/j.ejmg.2024.104986","url":null,"abstract":"<p><p>Biallelic loss-of-function variants in STRC contribute to mild-moderate hearing loss (DFNB16). Here, we report a female patient with mild hearing loss. Exome sequencing and MLPA analysis revealed STRC biallelic inactivation due to a nonsense and a CKMT1B-STRC deletion. Analysis of the self-reported normal-hearing parents revealed inconsistent Mendelian inheritance. Indeed, the mother was a heterozygous carrier of a CKTM1B-STRC-CATSPER2 deletion, and the father shared the same genotype as his daughter. He was later found to also have mild-moderate hearing loss. To address these discrepancies, we used long-read sequencing and optical genome mapping. We demonstrated that the father, in fact, carried a CKMT1B-STRC-CATSPER2 deletion in trans with the STRC nonsense variant and a tandem duplication of CATSPER2-CKMT1A. The proband inherited this latter haplotype, together with the maternal CKMT1B-STRC-CATSPER2 deletion. Combining these two technologies allowed us to fully elucidate the complex structural rearrangements at the STRC locus and provide appropriate genetic counselling.</p>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":" ","pages":"104986"},"PeriodicalIF":1.6,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791349","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":"Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.","authors":"Camille Chatelain, Léna Kukor, Sophie Bailleux, Vincent Bours, Saskia Bulk, Elisa Docampo","doi":"10.1016/j.ejmg.2024.104985","DOIUrl":"10.1016/j.ejmg.2024.104985","url":null,"abstract":"<p><p>Shprintzen-Goldberg syndrome is a rare systemic connective tissue disorder caused by heterozygous mutations in the Sloan-Kettering Institute (SKI) gene. The clinical presentation is reminiscent of Marfan and Loeys-Dietz syndromes, making differential diagnosis challenging. Shprintzen-Goldberg syndrome's distinctive features are craniosynostosis and learning disabilities. The pathophysiology of these three conditions is similar as they all result in the deregulation of the transforming growth factor beta (TGF-β) signaling pathway and thus an altered expression of TGF-β responsive genes. We report a family of two patients: one with initial suspicion of hypermobile Ehlers-Danlos syndrome and the second with suspicion of Marfan syndrome, as the Marfan systemic score was positive and no craniosynostosis or learning disabilities were described. They were diagnosed with Shprintzen-Goldberg syndrome after a heterozygous probably pathogenic variant in the second mutational hotspot of SKI Dachshund homology domain was identified. We reviewed the genotype-phenotype correlation among the three mutational hotspots in SKI: the amino acids 20 to 35 of the receptor-regulated small mothers against decapentaplegic domain (group 1, n = 32), amino acids 94 to 117 of Dachshund homology domain (group 2, n = 12), and threonine 180 of Dachshund homology domain (group 3, n = 11 including our patients). As the main differential diagnoses of Shprintzen-Goldberg syndrome are Marfan and Loeys-Dietz syndromes, we completed the comparison already made by Loeys and Dietz. (2008) of Shprintzen-Goldberg syndrome clinical features among the different mutational hotspots with Marfan syndrome and the different types of Loeys-Dietz syndrome. In addition to the already described absence of learning disabilities in Shprintzen-Goldberg patients with a pathogenic variant in the threonine 180 of Dachshund homology domain, facial features also appeared to be less severe. The clinical overlap with Marfan and Loeys-Dietz patients requires genetic testing in order to establish an accurate molecular diagnosis at the variant level, and to adapt genetic counseling and clinical management.</p>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":" ","pages":"104985"},"PeriodicalIF":1.6,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784567","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":"Feasibility study of the psychosocial effects of an online mindfulness intervention in children and adolescents with achondroplasia and their parents","authors":"Àngel Casellas ,&nbsp;Anna Casellas-Grau ,&nbsp;Àngel Serra ,&nbsp;Ester Busquets-Alibés","doi":"10.1016/j.ejmg.2024.104984","DOIUrl":"10.1016/j.ejmg.2024.104984","url":null,"abstract":"<div><h3>Introduction</h3><div>Achondroplasia is a common skeletal dysplasia caused by a mutation in the FGFR3 gene, leading to disproportionate short stature and various clinical features. Despite the absence of definitive pharmacological treatments, mindfulness-based interventions may offer psychosocial benefits for affected individuals and their families.</div></div><div><h3>Objectives</h3><div>This study aimed to assess the feasibility and psychosocial effects of an online mindfulness intervention for children and adolescents with achondroplasia and their parents.</div></div><div><h3>Methodology</h3><div>The intervention was an eight-week, synchronous online program with 15 participants: seven children and adolescents with achondroplasia and eight parents. Quantitative outcomes were assessed pre-and post-intervention using the State-Trait Anxiety Inventory for Children (STAIC) and the Multifactorial Self-Assessment Child Adaptation Test (TAMAI) for the younger participants, along with the Brief Symptom Inventory (BSI-18) for parents. Participant satisfaction was assessed using a customized survey, and qualitative data were collected through semi-structured interviews.</div></div><div><h3>Results</h3><div>The study demonstrated high feasibility, with 84.61% adherence and 93.75% participant satisfaction. Average anxiety levels decreased in children and adolescents (30.60 ± 5.12 to 26.80 ± 6.94, <em>p</em> = .285) and parents (3.67 ± 3.98 to 1.00 ± .89, <em>p</em> = .066). Emotional regulation was the most reported improvement category by children and adolescents (31.4%), while general well-being was the most noted by parents (29.63%).</div></div><div><h3>Conclusions</h3><div>The results support the feasibility of this online mindfulness intervention for individuals with achondroplasia and their parents, indicating benefits for psychosocial well-being. Future studies should address these limitations by expanding sample sizes, exploring hybrid intervention models, and ensuring data anonymity. Integrating mindfulness into comprehensive psychosocial care strategies could enhance the quality of life for these populations.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104984"},"PeriodicalIF":1.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142720548","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":"De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model","authors":"Daisuke Nakato ,&nbsp;Yuri Yasue ,&nbsp;Kohei Matsubara ,&nbsp;Hisato Suzuki ,&nbsp;Rika Kosaki ,&nbsp;Toshiki Takenouchi ,&nbsp;Mamiko Yamada ,&nbsp;Fuyuki Miya ,&nbsp;Toshiyuki Takano-Shimizu ,&nbsp;Kenjiro Kosaki","doi":"10.1016/j.ejmg.2024.104983","DOIUrl":"10.1016/j.ejmg.2024.104983","url":null,"abstract":"<div><div>Nonsense-mediated mRNA decay represents a biologic clearing system against aberrant mRNAs harboring nonsense and frameshift mutations and depends on three factors, UPF1, UPF2, and UPF3 (UPF3A, UPF3B). While germline pathogenic variants of <em>UPF3B</em> and <em>UPF2</em> are known to be associated with neurodevelopmental disorders, germline variants in <em>UPF1</em> have not been reported, until date, as being associated with any human disorders. Herein, we report two unrelated patients with <em>de novo UPF1</em> variants. Patient 1 was a 5-year-old girl with intellectual disabilities, frontal bossing, hypertelorism, high frontal hairline, and thin upper lip. Patient 2 was a 2-year-old female child with intellectual disabilities and similar features. Trio exome analysis revealed a <em>de novo</em> heterozygous variant in <em>UPF1</em> in both the patients (Patient 1: NM_002911.4): c.949_951del, p.(Asp317del); Patient 2: c.1984G&gt;A, p.(Asp662Asn)). We conducted experiments using <em>Drosophila</em> models to evaluate the functional relevance of these <em>UPF1</em> variants. Enforced expression of the wild-type <em>Upf1</em> allele under the control of the pan-neuronal <em>nSyb-GAL4</em> driver caused mortality, mostly at the pupal stage, but still yielded adult flies. By contrast, expression of the Asp294del (Asp317del in humans) variant caused embryonic or early larval lethality and that of the Asp643Asn (Asp662Asn in humans) caused third instar larval lethality; neither produced pupa nor adult fly. Thus, the developmental defects caused by the variants, especially Asp294del, were more severe than those caused by the wild-type allele. These observations suggest that both variants are deleterious mutations. In conclusion, germline variants in <em>UPF1</em> are associated with intellectual disabilities in humans.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104983"},"PeriodicalIF":1.6,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142686465","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":"Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR","authors":"Lise Graversen ,&nbsp;Mette Sommerlund ,&nbsp;Casper Kruse ,&nbsp;Hans Gjørup ,&nbsp;Pernille Axel Gregersen ,&nbsp;Uffe Birk Jensen ,&nbsp;Jenny Blechingberg","doi":"10.1016/j.ejmg.2024.104982","DOIUrl":"10.1016/j.ejmg.2024.104982","url":null,"abstract":"<div><div>Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5000–10,000 persons. In 10–15% the disease is caused by pathogenic variants in <em>EDAR</em>, and most of the known causal variants to date are missense or nonsense variants. We present a patient with classic Hypohidrotic Ectodermal Dysplasia and mammary gland aplasia with a duplication within <em>EDAR</em> as the likely cause. The duplication is <em>de novo</em> in the patient, and genome sequencing of DNA extracted from blood has revealed that the duplication is in tandem conformation, most likely entailing an altered EDAR protein with a dominant negative effect. This is to our knowledge the first report of an intragenic duplication in <em>EDAR</em> as causal for Hypohidrotic Ectodermal Dysplasia.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104982"},"PeriodicalIF":1.6,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544488","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":"Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case","authors":"Anne Grosen ,&nbsp;Charlotte K. Lautrup ,&nbsp;Emil Bahsen ,&nbsp;Henrik K. Jensen ,&nbsp;Dorte L. Lildballe","doi":"10.1016/j.ejmg.2024.104981","DOIUrl":"10.1016/j.ejmg.2024.104981","url":null,"abstract":"<div><h3>Background</h3><div>Genetic findings influence clinical care of patients suspected of hereditary cardiac diseases. As additional knowledge arises over time, the classification of genetic variants may change. The labor cost associated with systematic manual reevaluation for reported variants is substantial. We applied an automated variant classifier for reevaluation of previous reported variants to assess how such tools may assist in manual reevaluation.</div></div><div><h3>Methods</h3><div>Historically (2010–2022), patients (N = 2987) suspected of inherited cardiomyopathies or ion-channel disorders were screened for genetic variants in at least one of up to 114 genes. We had reported 1455 unique variants, of which 742 were among the 14 most relevant genes. In the 14-gene-group, we compared our reported classification to that of an autoclassifier and manually reevaluated variant classification of all variants. Among the remaining genes (N = 100), only variants where the autoclassifier predicted change of clinical impact, such as variant of uncertain significance to likely pathogenic or oppositely, were manually reevaluated.</div></div><div><h3>Results</h3><div>We identified 9% (66/742) of variants with clinical impact in the 14-gene-group. Of these, 91% could have been identified solely evaluating the 120 variants where the autoclassifier had predicted a change of clinical impact. In the 100 remaining genes, a change of clinical impact was identified in 3% (22/713) after manual reevaluation.</div></div><div><h3>Conclusion</h3><div>Using an autoclassifier reduces the workload to identify variants likely to have a change in variant class with clinical impact. Hence, we recommend using such tools to identify the variants most relevant to manually reevaluate to improve patient care.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104981"},"PeriodicalIF":1.6,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557470","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":"Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene","authors":"María Adoración Martín Gómez ,&nbsp;Mercedes Caba Molina ,&nbsp;Miriam León Fradejas ,&nbsp;Juana Alonso Titos ,&nbsp;Rafael del Pozo Alvarez","doi":"10.1016/j.ejmg.2024.104980","DOIUrl":"10.1016/j.ejmg.2024.104980","url":null,"abstract":"<div><div>A 50-year-old woman presented with nephrotic proteinuria and preserved glomerular filtration rate. A renal biopsy showed focal segmental glomerulosclerosis (FSGS) and glomerular basement membrane thinning. Her brother has a long history of chronic kidney disease, formerly diagnosed with minimal change disease, and eventually received a kidney allograft, developing high-grade proteinuria and decline in kidney function. FSGS was found by biopsy. Lastly, one paternal uncle suffered from the same condition, but he declined a biopsy. A genetic test identified a novel missense mutation in <em>LMX1B</em>, c.349G &gt; A:p(Gly117Ser). Thus, the present series of cases shows a familial <em>LMX1B</em>-associated nephropathy presenting with FSGS.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104980"},"PeriodicalIF":1.6,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567664","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":"ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation","authors":"Makoto Arioka ,&nbsp;Shinji Nakamura ,&nbsp;Katsufumi Nishioka ,&nbsp;Kota Inoue ,&nbsp;Yasuhiro Nakao ,&nbsp;Yumi Miyai ,&nbsp;Hirosuke Morita ,&nbsp;Kosuke Koyano ,&nbsp;Toshiki Takenouchi ,&nbsp;Saneyuki Yasuda ,&nbsp;Yoichi Chiba ,&nbsp;Takashi Iwase ,&nbsp;Masaki Ueno ,&nbsp;Takashi Kusaka","doi":"10.1016/j.ejmg.2024.104978","DOIUrl":"10.1016/j.ejmg.2024.104978","url":null,"abstract":"<div><div>Bohring-Opitz syndrome (BOS) is a rare disease with a characteristic facial appearance and limb position. This report describes a case of BOS complicated by persistent pulmonary hypertension of the newborn (PPHN) and formation of abnormal alveoli that was confirmed by autopsy. A female neonate was born by cesarean section at 37 weeks and 2 days of gestation and found to have a nevus flammeus, exophthalmos, abnormal palate, retraction of the mandible, and a posture characteristic of BOS. The patients had severe PPHN requiring inhalation of nitric oxide. Genetic testing revealed a <em>de novo</em> frameshift variant in <em>ASXL1</em>. Autopsy revealed that the lung was at the saccular stage, equivalent to 28–34 weeks of gestation. This is the first report to present pathological evidence of immaturity of the lung that may be associated with PPHN in a patient with BOS caused by a variant in <em>ASXL1</em>.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104978"},"PeriodicalIF":1.6,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460955","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":"Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal","authors":"Giulia Barcia ,&nbsp;Giovanna Scorrano ,&nbsp;Marlène Rio ,&nbsp;Cyril Gitiaux ,&nbsp;Marie Hully ,&nbsp;Karine Poirier ,&nbsp;Claude Besmond ,&nbsp;Arnold Munnich ,&nbsp;Nathalie Boddaert ,&nbsp;Nicole Chemaly ,&nbsp;Rima Nabbout","doi":"10.1016/j.ejmg.2024.104979","DOIUrl":"10.1016/j.ejmg.2024.104979","url":null,"abstract":"<div><div>Biallelic pathogenic variants in <em>CNTNAP2</em>, a gene encoding the contactin-associated protein-like 2, have been reported in patients with various clinical presentations including intellectual disability (ID), autistic spectrum disorders (ASD), psychiatric disorders, and focal epilepsy rarely associated to focal cortical dysplasia.</div><div>We report four children carrying novel biallelic <em>CNTNAP2</em> pathogenic variants. They present global developmental delay, psychiatric disorders, and focal epilepsy. All patients displayed brain MRI abnormalities consistent with focal temporal dysplasia. One patient had a temporal resection before the availability of genetic testing. Focal cortical dysplasia represents a frequent finding related to focal refractory epilepsy in <em>CNTNAP2</em> affected patients, and surgery seems to be ineffective in this setting. The genetic testing could therefore be impactful on treatment choices in refractory focal epilepsies.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104979"},"PeriodicalIF":1.6,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460956","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":"Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force","authors":"Faye H. Chen ,&nbsp;Adam L. Hartman ,&nbsp;Mary Catherine V. Letinturier ,&nbsp;Victoria Antoniadou ,&nbsp;Gareth Baynam ,&nbsp;Lara Bloom ,&nbsp;Marco Crimi ,&nbsp;Maria G. Della Rocca ,&nbsp;Giuseppe Didato ,&nbsp;Sofia Douzgou Houge ,&nbsp;Anneliene Jonker ,&nbsp;Martina Kawome ,&nbsp;Friederike Mueller ,&nbsp;James O'Brien ,&nbsp;Ratna Dua Puri ,&nbsp;Nuala Ryan ,&nbsp;Meow-Keong Thong ,&nbsp;Birutė Tumienė ,&nbsp;Melissa A. Parisi","doi":"10.1016/j.ejmg.2024.104977","DOIUrl":"10.1016/j.ejmg.2024.104977","url":null,"abstract":"<div><div>The International Rare Diseases Research Consortium (IRDiRC) Telehealth (TH) Task Force explored the use of TH for improving diagnosis, care, research, and education for rare diseases (RDs). The Task Force reviewed related literature published from January 2017 to August 2023, and identified various models and implementation strategies of TH for RD. The Task Force highlighted the reported value and benefits of using TH for RDs, along with the limitations and opportunities. The number of publications sharply increased since 2021, coinciding with the onset of the COVID-19 pandemic, which forced the rapid adoption of TH in many healthcare settings. One of the major benefits of TH for RDs lies in its capacity to surmount geographical barriers, which helps in overcoming the constraints posed by limited numbers and geographical dispersion of specialists. This was evident during the pandemic when TH was used to maintain a level of continued medical care and research when face-to-face visits were severely restricted. TH, through which clinical research can be decentralized, can also facilitate and enhance RD research by decreasing burden, expanding access, and enhancing efficiency. This will be especially beneficial when coupled with the adoption of digital health technologies, such as mobile health (mHealth) and wearable devices for remote monitoring (i.e., surveillance of outpatient data transmitted through devices), along with big data solutions. TH has also been shown to be an effective means for RD education and peer mentoring, enabling local health care providers (HCPs) to care for RD patients, which indirectly ensures that RD patients get the expertise and multidisciplinary care they need. However, limitations and weaknesses associated with using TH for RD care and research were also identified, including the inability to perform physical examinations and build relationships with HCPs. Therefore, TH has been recommended as a complement to, rather than substitute for, face-to-face consultations. There is also a concern that TH may lead to an amplification of health disparities and inequities related to social determinants of health for those with RDs due to lack of access to TH technologies, inadequate digital literacy, and geographical, socio-cultural, and linguistic barriers. Finally, the Task Force also discussed evidence and knowledge gaps that will benefit from future research efforts to help advance and expand the use of TH for RD care, research, and education.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104977"},"PeriodicalIF":1.6,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142389041","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}