European journal of medical genetics最新文献

{"title":"Aminoacyl-tRNA synthetase: A ‘semiotic enzyme’","authors":"Praveen Prathapan","doi":"10.1016/j.ejmg.2025.105041","DOIUrl":"10.1016/j.ejmg.2025.105041","url":null,"abstract":"<div><div>The genetic code is the set of rules by which nucleotide sequences correspond to amino acids. These rules are enforced by aminoacyl-tRNA synthetases (aaRSs): enzymes that ligate amino acids to tRNA molecules. Here it is argued this reaction suggests the genetic code may be understood as a ‘code process’. Contrary to the prevailing adaptor model of the genetic code based on tRNAs, the semiotic model recognises a ‘genetic code process’ catalysed by aaRSs.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105041"},"PeriodicalIF":1.7,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144894898","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":"Overview and expansion of CEP85L-associated lissencephaly","authors":"Isabell Schumann ,&nbsp;Rami Abou Jamra ,&nbsp;Robin-Tobias Jauss ,&nbsp;Maike Karnstedt ,&nbsp;Ulrich Specht ,&nbsp;Pia Zacher ,&nbsp;Friedrich Woermann ,&nbsp;Yuval Yaron ,&nbsp;Bernt Popp","doi":"10.1016/j.ejmg.2025.105042","DOIUrl":"10.1016/j.ejmg.2025.105042","url":null,"abstract":"<div><div>Defective neuronal migration causes lissencephaly (LIS), a neurodevelopmental disorder (NDD) with a smooth cerebral surface and abnormal cortical thickness. Variants in <em>CEP85L</em> are linked to posterior predominant LIS, but the phenotype and genotype are unclear. Three new unrelated cases of <em>CEP85L</em>-associated LIS are presented, including the first prenatal diagnosis and a mosaic variant. Clinical, neuroimaging, and genetic analyses were recorded. Data from 29 previously reported individuals was used in a comprehensive literature review. Human phenotype ontology (HPO) terms were used to annotate phenotypic features, and American College of Medical Genetics and Genomics (ACMG) guidelines were used to evaluate variants. All postnatal individuals had variable NDD. Global developmental delay was observed in 71 % (22/31), speech or motor delay in 54 % (11/31 and 6/31, respectively), and intellectual disability in 74 % (23/31) of cases. Focused and generalized-onset seizures occurred in 90 % (28/31). Brain magnetic resonance imaging (MRI) revealed predominantly posteriorly predominant LIS in all evaluated individuals, with 55 % (17/31) of cases also exhibiting subcortical band heterotopia (SBH). A total of 18 different <em>CEP85L</em> variants were identified among all individuals, all clustering in a highly conserved N-terminal region between amino acids 1 and 103. These included 10 missense mutations, five splice-site alterations, two start-loss variants, and one stop variant. Nine <em>de novo</em> variants, 10 mother-father variants, and 13 variants with unknown inheritance. Genotype-phenotype correlations in <em>CEP85L</em>-associated LIS show that stronger splice and germline variants often cause more severe symptoms than mosaic variants. To reduce confusion caused by alternative <em>CEP85L</em> transcripts, we recommend NM_001042475 for variant interpretation. These findings improve this disorder's genetic diagnostics and counseling framework.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105042"},"PeriodicalIF":1.7,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947187","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":"Further delineation of ERF-related Chitayat syndrome","authors":"Feng Zhu ,&nbsp;Yu Zhang ,&nbsp;Kaixuan Wang ,&nbsp;Chao-Chun Zou","doi":"10.1016/j.ejmg.2025.105038","DOIUrl":"10.1016/j.ejmg.2025.105038","url":null,"abstract":"<div><div>Chitayat syndrome (CHYTS) is an autosomal dominant disorder caused by variants in the ETS2 repressor factor (<em>ERF</em>) gene, located on 19q13.2. This gene encodes the ERF protein. The syndrome is extremely rare, with only 13 patients reported to date. We present a patient of CHYTS resulting from a c.1201_1202del (p.Lys401Glufs∗10) frameshift variant in the <em>ERF</em> (NM_001429.3) gene. The patient, a 10-year-old girl, exhibited typical features of the syndrome such as short stature, facial dysmorphism, and early developmental delay. She was treated with recombinant human growth hormone for ∼5 years due to her short stature. During treatment, no complications such as increased intracranial pressure, hypothyroidism, or pancreatic dysfunction were noted. However, the growth response was suboptimal, with a total height increase of 25.4 cm. This patient provides valuable insights into the clinical manifestations and treatment outcomes associated with <em>ERF</em>(NM_001429.3) gene variants, contributing to the existing knowledge and potentially aiding clinicians in understanding similar patients.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105038"},"PeriodicalIF":1.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144886567","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":"Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant","authors":"Yuya Tanaka ,&nbsp;Satoru Ikenoue ,&nbsp;Akihisa Ueno ,&nbsp;Yohei Masugi ,&nbsp;Mamiko Yamada ,&nbsp;Hisato Suzuki ,&nbsp;Toshimitsu Otani ,&nbsp;Marie Fukutake ,&nbsp;Yoshifumi Kasuga ,&nbsp;Kenjiro Kosaki ,&nbsp;Mamoru Tanaka","doi":"10.1016/j.ejmg.2025.105039","DOIUrl":"10.1016/j.ejmg.2025.105039","url":null,"abstract":"<div><div>Mirror syndrome is a rare obstetric condition characterized by maternal fluid retention mirroring fetal hydrops. Placental ectopic liver tissue is an extremely rare non-trophoblastic placental tumor, potentially arising from aberrant hepatoblast migration. While its association with fetal hydrops has been reported, the clinical significance remains uncertain. We present a patient of maternal mirror syndrome linked to fetal hydrops due to a <em>de novo SOS1</em> variant, with histopathological identification of placental ectopic liver tissue.</div><div>A 32-year-old woman was admitted at 31 weeks’ gestation with fetal hydrops, presenting with bilateral pleural effusions, ascites, and subcutaneous edema. Due to worsening maternal pleural effusion, she was transferred to our hospital at 31 weeks and 6 days. Given progressive maternal and fetal deterioration, an emergency cesarean section was performed at 32 weeks due to concerns regarding maternal mirror syndrome. The female infant was delivered with severe respiratory distress and succumbed at 9 days of age. Trio-based exome sequencing identified a <em>de novo</em> heterozygous <em>SOS1</em> variant (NM_005633.4:c.512T &gt; A [p.V171G]), confirming a postmortem diagnosis of Noonan syndrome. Histopathological analysis of the placenta revealed ectopic liver tissue within the villi, confirmed by positive immunostaining for hepatocyte markers. A recent report of <em>RIT1</em>-associated mirror syndrome and non-immune hydrops fetalis (NIHF) further supports the role of Rasopathies in the pathogenesis of mirror syndrome.</div><div>Our findings confirm that mirror syndrome is a potential manifestation of Rasopathies, while the role of ectopic liver tissue in the placenta remains uncertain. Future research should focus on genetic factors underlying mirror syndrome rather than incidental placental anomalies.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105039"},"PeriodicalIF":1.7,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882483","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":"Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study","authors":"Sietske A.L. van Till ,&nbsp;Arianne Bouman ,&nbsp;Tjitske Kleefstra ,&nbsp;Eline M. Bunnik","doi":"10.1016/j.ejmg.2025.105037","DOIUrl":"10.1016/j.ejmg.2025.105037","url":null,"abstract":"<div><div>Kleefstra Syndrome (KLEFS1) is a monogenic neurodevelopmental disorder characterized by developmental delays, somatic issues, and (neuro)psychiatric symptoms. Individuals with KLEFS1 often require complex, ongoing support, which significantly impacts family life. To effectively improve care and support for families, a better understanding is needed of the impacts of raising a child with KLEFS1 on the family and families' support needs. We conducted a semi-structured interview study among parents of children with KLEFS1 to investigate these impacts. The interviews were audio-recorded, transcribed, coded, and thematically analyzed. We conducted 12 interviews with 15 parents of children with KLEFS1 (8–25 years old), in the Netherlands and Belgium. Over the years, parents have encountered significant challenges. Although parents value timely diagnosis, the emotional impact was profound, especially for parents of younger children. Parents focused on their children's developmental symptoms, and behavioral and psychiatric symptoms, which had significant impacts, including impacts on parents' employment status, their ability to undertake activities, and emotional well-being. Parents were concerned about their children's future, because of children's lifelong dependency and risk of regression. Parents prioritized receiving adequate care and support to decrease the burden on their family and to improve their child's well-being. To better support families, the accessibility of social support needs to be improved, e.g., by expanding respite care services and specialized schooling, simplifying regulations for accessing social support, and providing tailored emotional support and information during the diagnostic process. When developing treatments, researchers should incorporate parental experiences in defining patient-relevant outcome measures.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105037"},"PeriodicalIF":1.7,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882484","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 fetal case of Stüve-Wiedemann syndrome due to a novel homozygous truncating variant in IL6ST","authors":"Dominique Braun ,&nbsp;Sofia Amylidi-Mohr ,&nbsp;Olaf Ahrens ,&nbsp;Mafalda Trippel ,&nbsp;Rike Schiller ,&nbsp;Christiane Zweier","doi":"10.1016/j.ejmg.2025.105040","DOIUrl":"10.1016/j.ejmg.2025.105040","url":null,"abstract":"<div><div>Stüve-Wiedemann syndrome is a rare skeletal dysplasia characterized by severe shortening and bowing of the long bones and by immunological and autonomous dysfunction, usually resulting in early death. Bi-allelic loss-of-function variants in either the leukemia inhibitory factor receptor encoding <em>LIFR</em> or the interleukin-6 cytokine family signal transducer encoding <em>IL6ST</em> are causative. So far, five individuals from three unrelated families were described with <em>IL6ST</em> associated Stüve-Wiedemann syndrome. We here report on a sixth case that came to attention at 21 weeks of gestation with short and bowed long bones. Prenatal trio exome sequencing revealed the homozygous novel variant p.(Ser375∗) in <em>IL6ST</em> in the fetus. The further course of the pregnancy was complicated by early rupture of the membranes and preeclampsia. The fetus died <em>in utero</em> in gestational week 34 and was born with dolichocephalus, severe bowing and shortening of limb bones, a narrow upper thorax, joint dislocations and abnormal bone mineralization.</div><div>With this case report, we further delineate the molecular and clinical spectrum of <em>IL6ST</em> related Stüve-Wiedemann syndrome.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105040"},"PeriodicalIF":1.7,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144878405","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":"Autosomal recessive frameshift variant broadens HECW2-related disease spectrum","authors":"Reyhaneh Dehghanzad ,&nbsp;Yeganeh Eshaghkhani ,&nbsp;Mohammad Saberi ,&nbsp;Maryam Jamshidifar ,&nbsp;Parvaneh Karimzadeh ,&nbsp;Mohammad Keramatipour","doi":"10.1016/j.ejmg.2025.105036","DOIUrl":"10.1016/j.ejmg.2025.105036","url":null,"abstract":"<div><div>The <em>HECW2</em> gene encodes a HECT (homologous to E6-AP carboxy terminus)-type E3 ubiquitin ligase that plays a critical role in neurodevelopment. Pathogenic variants in <em>HECW2</em> are associated with a neurodevelopmental disorder characterized by hypotonia, seizures, and absent language (NDHSAL; OMIM #617268), typically inherited in an autosomal dominant pattern. However, recent evidence suggests that some variants in <em>HECW2</em> gene may cause the disease with autosomal recessive inheritance.</div><div>Here, we report a 6-year-old female proband of consanguineous Afghan descent who presented with severe microcephaly, hypotonia, failure to thrive, recurrent seizures, global neurodevelopmental delay, and brain MRI findings of significant cerebral and cerebellar atrophy. Whole-exome sequencing revealed a novel homozygous frameshift variant in <em>HECW2</em> (c.3601_3602insT, p.Y1201Lfs∗7, ClinVar: SCV006279594) in this patient. In silico analyses and Sanger validation confirmed the pathogenicity of this variant and its autosomal recessive inheritance, with both parents being heterozygous carriers but clinically unaffected. This frameshift variant likely results in nonsense-mediated decay (NMD) of the mRNA, suggesting a loss-of-function mechanism distinct from the mechanism implicated in missense variants that causing the disease with autosomal dominant inheritance.</div><div>This study expands the phenotype and genetic spectrum of <em>HECW2</em>-related disorders and highlights the importance of recognizing autosomal recessive inheritance patterns. The findings emphasize the need for comprehensive genetic analyses, especially in consanguineous populations, and underscore the value of considering null variants in HECW2 when evaluating severe neurodevelopmental phenotypes. Further studies exploring the molecular mechanisms of <em>HECW2</em> variants are essential to deepen our understanding of its role in neurodevelopment and refine diagnostic and therapeutic approaches.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105036"},"PeriodicalIF":1.7,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144842465","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":"Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report","authors":"Anna Irene Skei Sekkelsten ,&nbsp;Thor Håkon Skattør ,&nbsp;Henrik Holmstrøm ,&nbsp;Kirsten Krohg-Sørensen ,&nbsp;Benedicte Paus","doi":"10.1016/j.ejmg.2025.105035","DOIUrl":"10.1016/j.ejmg.2025.105035","url":null,"abstract":"<div><div>Vascular Ehlers-Danlos syndrome (vEDS) is an inherited connective tissue disorder caused by heterozygous variants in <em>COL3A1</em>, leading to tissue and vessel fragility alongside an increased risk of potentially fatal aneurysms and dissections. Although vascular events most commonly manifest in adulthood, childhood events also occur. Knowledge on clinical manifestations in childhood and potential benefits of vascular surveillance is limited, and no evidence-based guidelines for predictive genetic testing and follow-up exist.</div><div>We present five patients diagnosed with vEDS in childhood, focusing on vascular events. The patients receive follow-up at a multidisciplinary heritable thoracic aortic disease clinic at Oslo University Hospital and are registered in the associated patient registry.</div><div>Two of the five patients experienced a childhood vascular event, both involving cerebral vessels. In one of these patients, the event may not be vEDS related. A mild aortic root dilatation was detected in one patient. No severe aortic events like dissection or rupture were reported in childhood, but one patient died from an aortic dissection in early adulthood despite normal findings on MRA scans in the years he received regular surveillance.</div><div>Our findings highlight the variable expressivity of vEDS, including severe childhood vascular events. Further studies to evaluate the effect of surveillance are needed to form an evidence base for surveillance guidelines in pediatric patients. Established benefits of surveillance and management are essential for deciding on whether and when to perform predictive genetic testing of a child at risk.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105035"},"PeriodicalIF":1.7,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144854961","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":"Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders","authors":"Sebastian Neuens ,&nbsp;Julie Soblet ,&nbsp;Aurelie Penninckx ,&nbsp;Claire Detry ,&nbsp;Cindy Badoer ,&nbsp;Laurence Desmyter ,&nbsp;Xavier Peyrassol ,&nbsp;Françoise Wilkin ,&nbsp;Adeline Busson ,&nbsp;Marie Bruneau ,&nbsp;Marie-Laure Grenet ,&nbsp;Alice Le Morillon ,&nbsp;Alec Aeby ,&nbsp;Nicolas Deconinck ,&nbsp;Cynthia Prigogine ,&nbsp;Anne Monier ,&nbsp;Elodie Juvené ,&nbsp;Tom Balfroid ,&nbsp;Audrey Van Hecke ,&nbsp;Florence Christiaens ,&nbsp;Catheline Vilain","doi":"10.1016/j.ejmg.2025.105030","DOIUrl":"10.1016/j.ejmg.2025.105030","url":null,"abstract":"<div><div>Next generation sequencing has revolutionized the diagnostic approach for patients with neurodevelopmental disorders (NDDs), yields are however highly variable depending on the patient's phenotype. It is often challenging to predict which indications are likely to lead to a molecular diagnosis and which will benefit less from genetic testing.</div><div>To identify phenotypic characteristics associated with higher diagnostic yields we conducted detailed phenotyping of a cohort of 868 children with NDD, who underwent clinical exome sequencing between 2016 and 2021.</div><div>A molecular diagnosis was reached in 27 % of cases. Significantly higher yields of respectively 34 % and 32 % were observed in patients with intellectual disability (ID) or global developmental delay (GDD). Autism spectrum disorders (ASD) were less likely to result in a molecular diagnosis with a diagnostic yield of 16 %. Additional factors linked to higher yields included female gender, the presence of minor dysmorphic features — particularly involving the face, extremities, ears, eyes, and hair — and a syndromic phenotype.</div><div>Additional CNV calling in a subset of 438 patients which consented to reanalysis of sequencing data added 1.5 % to diagnostic yield.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"76 ","pages":"Article 105030"},"PeriodicalIF":1.6,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144523086","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":"Uniparental isodisomy of chromosome 1 involving NPHS2 in steroid-resistant nephrotic syndrome with renal failure","authors":"S. Magliulo ,&nbsp;M.L. Genovesi ,&nbsp;L. Lucchetti ,&nbsp;V. Orlando ,&nbsp;A. Novelli ,&nbsp;L. Massella ,&nbsp;A. Terracciano","doi":"10.1016/j.ejmg.2025.105029","DOIUrl":"10.1016/j.ejmg.2025.105029","url":null,"abstract":"<div><div>Steroid-resistant nephrotic syndrome is a rare condition defined by early severe proteinuria associated with hypoalbuminemia, hyperlipidemia and possible edema, is usually caused by pathogenic variants in genes affecting the establishment and maintenance of the glomerular filtration barrier; among these <em>NPHS1</em> (19q13.12) and <em>NPHS2</em> (1q25.2) are by far the two main autosomal recessive genes implicated. We report on a 23-year-old girl referred to our hospital for Steroid-resistant nephrotic syndrome secondary to focal segmental glomerulosclerosis, onset at the age of 5 months. Next Generation Sequencing analysis showed the homozygous pathogenic variant c.413G &gt; A in the <em>NPHS2</em> gene, leading to the amino acid change p.Arg138Gln (rs74315342). By segregation study the father resulted heterozygous carrier of the same variants, while the mother emerged as wild-type. In order to investigate a possible chromosomal rearrangement in the maternal allele, SNP-array analysis was performed, revealing a paternally chromosome 1 isodisomy in the proband. Uniparental disomy of chromosome 1 is not associated with a specific phenotype but unmasks the autosomal recessive <em>NPHS2</em> mutation paternally inherited and bring it to a homozygosity state. In conclusion, this clinical report demonstrates the importance of parental segregation analysis, especially in patients with recessive conditions, both to search for the disease specific genetic cause and to appropriately estimate the risk of recurrence in the family.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"76 ","pages":"Article 105029"},"PeriodicalIF":1.6,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144331088","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}