European journal of medical genetics最新文献

{"title":"Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal","authors":"L. Guimarães, Ruxanda Baião, Catarina Costa, M. Lemos, Margarida Rangel Henriques, Milena Paneque","doi":"10.1016/j.ejmg.2023.104908","DOIUrl":"https://doi.org/10.1016/j.ejmg.2023.104908","url":null,"abstract":"","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"73 ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139023368","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":"Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype","authors":"J. Harkness, Huw B. Thomas, J. Urquhart, Peter Jamieson, Raymond T. O'Keefe, Helen M. Kingston, Charulata Deshpande, William G. Newman","doi":"10.1016/j.ejmg.2023.104907","DOIUrl":"https://doi.org/10.1016/j.ejmg.2023.104907","url":null,"abstract":"","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"277 ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139021324","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":"Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients: a dialogic approach","authors":"D. Scognamiglio ,&nbsp;M. Boarini ,&nbsp;M.C. la Forgia ,&nbsp;E. Grippa ,&nbsp;S. Forni ,&nbsp;A. Sergi ,&nbsp;A. Romeo ,&nbsp;G. Massa ,&nbsp;L. Sangiorgi","doi":"10.1016/j.ejmg.2023.104891","DOIUrl":"10.1016/j.ejmg.2023.104891","url":null,"abstract":"<div><p>The Italian patient association for Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome, Associazione Conto Alla Rovescia-ACAR Aps, conducted a mixed-methods study at its 2023 annual conference. The study included the Open Dialogue Approach and a feedback survey to identify the main priorities in the transitioning process from paediatric to adult healthcare for patients with Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome.</p><p>The common needs identified by patients, families, caregivers, and healthcare professionals were coordination and continuity of care, patient empowerment and communication, social and practical support, and transition planning and support.</p><p>This experience fostered a sense of collaboration and cooperation among stakeholders, helping to build trust and create a shared vision for improving the quality of care for these patients. Furthermore, it could be considered a starting point for other patient associations interested in using different approaches to identify the needs of their members and actively involve all stakeholders.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"67 ","pages":"Article 104891"},"PeriodicalIF":1.9,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721223001970/pdfft?md5=e60faf7e0501489ecf8d70674fd7f82e&pid=1-s2.0-S1769721223001970-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138470057","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":"Secondary physical features in children with FASD","authors":"Miguel del Campo ,&nbsp;Julie A. Kable ,&nbsp;Claire D. Coles ,&nbsp;Michael Suttie ,&nbsp;Christina D. Chambers ,&nbsp;Gretchen Bandoli","doi":"10.1016/j.ejmg.2023.104890","DOIUrl":"10.1016/j.ejmg.2023.104890","url":null,"abstract":"<div><h3>Objective</h3><p><span><span>The diagnoses included within the umbrella term fetal alcohol spectrum disorders<span><span> (FASD), are based on the documentation of prenatal alcohol exposure (PAE), growth deficits and a pattern of dysmorphic physical features and neurobehavioral impairments. Although 3 key facial features (short </span>palpebral fissures, a smooth </span></span>philtrum and a thin vermilion of the upper lip) are the only </span>dysmorphic features<span> taken into account for the diagnosis of Fetal Alcohol Syndrome (FAS) or partial FAS (pFAS), several other features are commonly seen in individuals with these diagnoses. The goals of our study were to determine if some of these secondary physical features also occur more frequently in children with alcohol-related neurodevelopmental disorder (ARND) relative to controls, and if a cluster of these features combined in a dysmorphology score could be used to identify those negatively impacted by PAE but who do not have the cardinal physical features that led to a diagnosis of FAS or pFAS.</span></p></div><div><h3>Methods</h3><p>Among 2681 children recruited for the Collaboration on Fetal Alcohol Spectrum Disorders Prevalence (CoFASP) study, 1726 had an FASD or sufficient evidence of PAE having occurred or not in their pregnancy. Children were then categorized into groups using the modified Hoyme diagnostic criteria (FAS (n = 24), pFAS (n = 99) and ARND (n = 87), and No FASD (n = 1516), including those with No FASD and a history of PAE (No FASD/PAE, n = 498) and those with No FASD and no history of PAE (No FASD/No PAE, n = 1018). The frequencies of 26 secondary dysmorphic features were compared among these groups, both individually and combined in non-weighted and weighted dysmorphic scores. Correlations of the total dysmorphic scores with an index of overall cognitive ability were also compared by group status.</p></div><div><h3>Results</h3><p>Several of these features were significantly more frequent in children with FAS than in those with No FASD diagnosis with or without PAE but not in comparison to those with ARND. The number of features was also significantly higher in the FAS group as compared to all other groups for both weighted and unweighted dysmorphology scores but were not higher in the group with ARND when compared to the groups with No FASD either in the presence or absence of PAE. Although not diagnostic, higher total dysmorphology scores were predictive of lower general cognitive abilities in the group with ARND, suggesting severity of alcohol-related dysmorphology is predictive of severity of alcohol-related neurobehavioral impairment.</p></div><div><h3>Conclusion</h3><p>Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"67 ","pages":"Article 104890"},"PeriodicalIF":1.9,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138477084","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":"New description of an MRPS2 homozygous patient: Further features to help expend the phenotype","authors":"Thalia Papadopoulos ,&nbsp;Pauline Gaignard ,&nbsp;Manuel Schiff ,&nbsp;Marlène Rio ,&nbsp;Daniela Karall ,&nbsp;Adrien Legendre ,&nbsp;Alain Verloes ,&nbsp;Lyse Ruaud","doi":"10.1016/j.ejmg.2023.104889","DOIUrl":"10.1016/j.ejmg.2023.104889","url":null,"abstract":"<div><p><span><span>Mutated mito-ribosomal protein S2 (MRPS2) was already described in only three subjects, two with sensorineural hearing impairment, mild developmental delay, hypoglycemia, lactic acidemia and combined </span>oxidative phosphorylation system deficiency and another, recently, presenting with a less severe phenotype. In order to expand the phenotype, we describe a new </span><em>MRPS2</em><span> homozygous subject who shows particular features which have not yet been reported: initial microcephaly<span>, joint hypermobility and autistic features.</span></span></p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"67 ","pages":"Article 104889"},"PeriodicalIF":1.9,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138458743","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":"Early-onset diabetes in Africa: A mini-review of the current genetic profile","authors":"Samuel Mawuli Adadey ,&nbsp;Joy Afua Mensah ,&nbsp;Kojo Sekyi Acquah ,&nbsp;James Abugri ,&nbsp;Richard Osei-Yeboah","doi":"10.1016/j.ejmg.2023.104887","DOIUrl":"10.1016/j.ejmg.2023.104887","url":null,"abstract":"<div><p><span><span>Early-onset diabetes is poorly diagnosed partly due to its heterogeneity and variable presentations. Although several genes have been associated with the disease, these genes are not well studied in Africa. We sought to identify the major neonatal, early childhood, juvenile, or early-onset diabetes genes in Africa; and evaluate the available molecular methods used for investigating these gene variants. A literature search was conducted on PubMed, </span>Scopus<span>, Africa-Wide Information, and Web of Science databases. The retrieved records were screened and analyzed to identify genetic variants associated with early-onset diabetes. Although 319 records were retrieved, 32 were considered for the current review. Most of these records (22/32) were from North Africa. The disease condition was genetically heterogenous with most cases possessing unique gene variants. We identified 22 genes associated with early-onset diabetes, 9 of which had variants (n = 19) classified as pathogenic or likely pathogenic (PLP). Among the PLP variants, </span></span><em>IER3IP1</em><span>: p.(Leu78Pro) was the variant with the highest number of cases. There was limited data from West Africa, hence the contribution of genetic variability to early-onset diabetes in Africa could not be comprehensively evaluated. It is worth mentioning that most studies were focused on natural products as antidiabetics and only a few studies reported on the genetics of the disease. </span><span><em>ABCC8</em></span> and <em>KCNJ11</em><span><span> were implicated as major contributors to early-onset diabetes gene networks. Gene ontology analysis of the network associated ion channels, </span>impaired glucose tolerance<span>, and decreased insulin secretions to the disease. Our review highlights 9 genes from which PLP variants have been identified and can be considered for the development of an African diagnostic panel. There is a gap in early-onset diabetes genetic research from sub-Saharan Africa which is much needed to develop a comprehensive, efficient, and cost-effective genetic panel that will be useful in clinical practice on the continent and among the African diasporas</span></span><strong>.</strong></p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104887"},"PeriodicalIF":1.9,"publicationDate":"2023-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138298762","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":"Resolving fetal hydrops – A rare entity","authors":"Deepti Saxena ,&nbsp;Amit K. Tiwari ,&nbsp;Rameshwar Prasad ,&nbsp;Saumya Srivastav","doi":"10.1016/j.ejmg.2023.104888","DOIUrl":"10.1016/j.ejmg.2023.104888","url":null,"abstract":"<div><p><span><span>Non-immune hydrops fetalis<span> (NIHF) is abnormal accumulation of serous fluid in ≥2 interstitial spaces with no evidence of maternal red cell </span></span>alloimmunization. Leaving a few treatable conditions, it is generally considered as a sign of poor fetal outcome. Bi-allelic variants in </span><em>THSD1</em><span> have been found to be to be associated with phenotypes ranging from lethal NIHF to persistent edema. Here, we report a family with non-immune hydrops in two successive pregnancies. Whole exome sequencing in second pregnancy identified a homozygous truncating variant in </span><em>THSD1</em> (NM_018676:c.892G&gt;T:p.Glu298Ter). Postnatal follow up showed gradual resolution of the accumulated fluid and normal development. This report further strengthens the association of variants in <em>THSD1</em> with NIHF.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104888"},"PeriodicalIF":1.9,"publicationDate":"2023-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138294960","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":"Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review","authors":"Emanuele Monda ,&nbsp;Athanasios Bakalakos ,&nbsp;Petros Syrris ,&nbsp;Saidi Mohiddin ,&nbsp;Sacha Ferdinandusse ,&nbsp;Elaine Murphy ,&nbsp;Perry Mark Elliott","doi":"10.1016/j.ejmg.2023.104885","DOIUrl":"10.1016/j.ejmg.2023.104885","url":null,"abstract":"<div><h3>Background</h3><p>Malonyl-CoA decarboxylase deficiency (MLYCDD) is an ultra-rare inherited metabolic disorder<span>, characterized by multi-organ involvement manifesting during the first few months of life. Our aim was to describe the clinical, biochemical, and genetic characteristics of patients with later-onset MLYCDD.</span></p></div><div><h3>Methods</h3><p><span>Clinical and biochemical characteristics of two patients aged 48 and 29 years with a confirmed molecular diagnosis of MLYCDD were examined. A </span>systematic review of published studies describing the characteristics of cardiovascular involvement of patients with MLYCDD was performed.</p></div><div><h3>Results</h3><p><span>Two patients diagnosed with MLYCDD during adulthood were identified. The first presented with hypertrophic cardiomyopathy<span> and ventricular pre-excitation and the second with dilated cardiomyopathy (DCM) and mild-to-moderate left ventricular (LV) systolic dysfunction. No other clinical manifestation typical of MLYCDD was observed. Both patients showed slight increase in malonylcarnitine in their plasma acylcarnitine profile, and a reduction in malonyl-CoA decarboxylase activity. During follow-up, no deterioration of LV </span></span>systolic function was observed.</p><p>The systematic review identified 33 individuals with a genetic diagnosis of MLYCDD (median age 6 months [IQR 1–12], 22 males [67%]). Cardiovascular involvement was observed in 64% of cases, with DCM the most common phenotype. A modified diet combined with levocarnitine supplementation resulted in the improvement of LV systolic function in most cases. After a median follow-up of 8 months, 3 patients died (two heart failure-related and one arrhythmic death).</p></div><div><h3>Conclusions</h3><p>For the first time this study describes a later-onset phenotype of MLYCDD patients, characterized by single-organ involvement, mildly reduced enzyme activity, and a benign clinical course.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104885"},"PeriodicalIF":1.9,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138046660","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":"Response to the comment on Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844)","authors":"Karin E.M. Diderich,&nbsp;Jasmijn E. Klapwijk,&nbsp;Vyne van der Schoot,&nbsp;Myrthe van den Born,&nbsp;Martina Wilke,&nbsp;Marieke Joosten,&nbsp;Kyra E. Stuurman,&nbsp;Lies H. Hoefsloot,&nbsp;Diane Van Opstal,&nbsp;Hennie T. Brüggenwirth,&nbsp;Malgorzata I. Srebniak","doi":"10.1016/j.ejmg.2023.104884","DOIUrl":"https://doi.org/10.1016/j.ejmg.2023.104884","url":null,"abstract":"","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"67 ","pages":"Article 104884"},"PeriodicalIF":1.9,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721223001908/pdfft?md5=125a1163205c3026ea6b7faaa4f1b8ee&pid=1-s2.0-S1769721223001908-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134688795","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":"National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark","authors":"Dorte L. Lildballe ,&nbsp;Anja Lisbeth Frederiksen ,&nbsp;Bitten Schönewolf-Greulich ,&nbsp;Charlotte Brasch-Andersen ,&nbsp;Charlotte Kvist Lautrup ,&nbsp;Helena Gásdal Karstensen ,&nbsp;Inge Søkilde Pedersen ,&nbsp;Lone Sunde ,&nbsp;Lotte Risom ,&nbsp;Maria Rasmussen ,&nbsp;Mette Bertelsen ,&nbsp;Mette Klarskov Andersen ,&nbsp;Nanna Dahl Rendtorff ,&nbsp;Pernille Axél Gregersen ,&nbsp;Pernille M. Tørring ,&nbsp;Sophia Hammer-Hansen ,&nbsp;Susanne E. Boonen ,&nbsp;Suzanne Granhøj Lindquist ,&nbsp;Trine Bjørg Hammer ,&nbsp;Birgitte R. Diness","doi":"10.1016/j.ejmg.2023.104872","DOIUrl":"10.1016/j.ejmg.2023.104872","url":null,"abstract":"<div><p><span>Genetic<span> conditions are often familial, but not all relatives receive counseling from the same institution. It is therefore necessary to ensure consistency in variant interpretation, counseling practices, and clinical follow up across health care providers. Furthermore, as new possibilities for gene-specific treatments emerge and </span></span>whole genome sequencing becomes more widely available, efficient data handling and knowledge sharing between clinical laboratory geneticists and medical specialists in clinical genetics are increasingly important.</p><p>In Denmark, these needs have been addressed through the establishment of collaborative national networks called Genetic Expert Networks or \"GENets\". These networks have enhanced patient and family care significantly by bringing together groups of experts in national collaborations. This promotes coordinated clinical care, the dissemination of best clinical practices, and facilitates the exchange of new knowledge.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104872"},"PeriodicalIF":1.9,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134648721","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}