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European Journal of Human Genetics : EJHG

https://read.qxmd.com/read/36959498/equity-implications-of-patient-initiated-recontact-and-follow-up-in-clinical-genetics
#1
JOURNAL ARTICLE
Michael P Mackley, Lauren Chad
No abstract text is available yet for this article.
March 23, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36949262/a-practical-checklist-for-return-of-results-from-genomic-research-in-the-european-context
#2
JOURNAL ARTICLE
Danya F Vears, Nina Hallowell, Heidi Beate Bentzen, Bridget Ellul, Therese Haugdahl Nøst, Angeliki Kerasidou, Shona M Kerr, Michaela Th Mayrhofer, Signe Mežinska, Elizabeth Ormondroyd, Berge Solberg, Birgitte Wirum Sand, Isabelle Budin-Ljøsne
An increasing number of European research projects return, or plan to return, individual genomic research results (IRR) to participants. While data access is a data subject's right under the General Data Protection Regulation (GDPR), and many legal and ethical guidelines allow or require participants to receive personal data generated in research, the practice of returning results is not straightforward and raises several practical and ethical issues. Existing guidelines focusing on return of IRR are mostly project-specific, only discuss which results to return, or were developed outside Europe...
March 22, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36935420/a-genome-wide-association-analysis-of-loss-of-ambulation-in-dystrophinopathy-patients-suggests-multiple-candidate-modifiers-of-disease-severity
#3
JOURNAL ARTICLE
Kevin M Flanigan, Megan A Waldrop, Paul T Martin, Roxane Alles, Diane M Dunn, Lindsay N Alfano, Tabatha R Simmons, Melissa Moore-Clingenpeel, John Burian, Sang-Cheol Seok, Robert B Weiss, Veronica J Vieland
The major determinant of disease severity in Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether the dystrophin gene (DMD) mutation truncates the mRNA reading frame or allows expression of a partially functional protein. However, even in the complete absence of dystrophin, variability in disease severity is observed, and candidate gene studies have implicated several genes as modifiers. Here we present the largest genome-wide search to date for loci influencing severity in N = 419 DMD patients...
March 20, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36935419/limitations-concerns-and-potential-attitudes-of-healthcare-professionals-toward-preimplantation-genetic-testing-using-polygenic-risk-scores
#4
JOURNAL ARTICLE
Maria Siermann, Ophelia Valcke, Joris Robert Vermeesch, Taneli Raivio, Olga Tšuiko, Pascal Borry
Preimplantation genetic testing using polygenic risk scores (PGT-P) has recently been introduced. However, PGT-P has been met with many ethical concerns. It is therefore important to get insights into the perspectives of stakeholders regarding PGT-P. We performed a qualitative interview study on the views of healthcare professionals toward PGT-P. We conducted in-depth semi-structured interviews with 31 healthcare professionals working in the field of preimplantation genetic testing. The interviews explored the attitudes of healthcare professionals toward the technology of PGT-P, e...
March 20, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36935418/expanding-the-australian-newborn-blood-spot-screening-program-using-genomic-sequencing-do-we-want-it-and-are-we-ready
#5
JOURNAL ARTICLE
Stephanie White, Tamara Mossfield, Jane Fleming, Kristine Barlow-Stewart, Sondhya Ghedia, Rebecca Dickson, Fiona Richards, Yvonne Bombard, Veronica Wiley
Since the introduction of genome sequencing in medicine, the factors involved in deciding how to integrate this technology into population screening programs such as Newborn Screening (NBS) have been widely debated. In Australia, participation in NBS is not mandatory, but over 99.9% of parents elect to uptake this screening. Gauging stakeholder attitudes towards potential changes to NBS is vital in maintaining this high participation rate. The current study aimed to determine the knowledge and attitudes of Australian parents and health professionals to the incorporation of genomic sequencing into NBS programs...
March 20, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36935417/ribonuclease-inhibitor-1-rnh1-deficiency-cause-congenital-cataracts-and-global-developmental-delay-with-infection-induced-psychomotor-regression-and-anemia
#6
JOURNAL ARTICLE
Carola Hedberg-Oldfors, Sanhita Mitra, Angela Molinaro, Kittichate Visuttijai, Linda Fogelstrand, Anders Oldfors, Fredrik H Sterky, Niklas Darin
Ribonuclease inhibitor 1, also known as angiogenin inhibitor 1, encoded by RNH1, is a ubiquitously expressed leucine-rich repeat protein, which is highly conserved in mammalian species. Inactivation of rnh1 in mice causes an embryonically lethal anemia, but the exact biological function of RNH1 in humans remains unknown and no human genetic disease has so far been associated with RNH1. Here, we describe a family with two out of seven siblings affected by a disease characterized by congenital cataract, global developmental delay, myopathy and psychomotor deterioration, seizures and periodic anemia associated with upper respiratory tract infections...
March 20, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36927983/clinical-case-study-meets-population-cohort-identification-of-a-brca1-pathogenic-founder-variant-in-orcadians
#7
JOURNAL ARTICLE
Shona M Kerr, Emma Cowan, Lucija Klaric, Christine Bell, Dawn O'Sullivan, David Buchanan, Joseph J Grzymski, Cristopher V van Hout, Gannie Tzoneva, Alan R Shuldiner, James F Wilson, Zosia Miedzybrodzka
We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer families from Orkney in the Northern Isles of Scotland, UK. We sought to investigate the frequency and clinical relevance of this variant in those of Orcadian ancestry as an exemplar of the value of population cohorts in clinical care, especially in isolated populations. Oral history and birth, marriage and death registrations indicated genealogical linkage of the clinical cases to ancestors from the Isle of Westray, Orkney...
March 16, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36922634/down-syndrome-screening-and-diagnosis-practices-in-europe-united-states-australia-and-new-zealand-from-1990-2021
#8
REVIEW
Henry C Wilmot, Gert de Graaf, Pieter van Casteren, Frank Buckley, Brian G Skotko
Antenatal screening and diagnostic testing for Down syndrome has greatly advanced over the past 30 years. The goal of this manuscript is to provide a review of the availability and accessibility of prenatal services and selective termination policies across Europe, Australia, New Zealand, and the United States for the period 1990-2021. We collected data from academic peer-reviewed journals, governmental documents, not-for-profit organizations, correspondence with experts, and other online sources without language restrictions...
March 16, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36922633/genome-wide-meta-analysis-identifies-novel-loci-conferring-risk-of-acne-vulgaris
#9
JOURNAL ARTICLE
Maris Teder-Laving, Mart Kals, Anu Reigo, Riin Ehin, Telver Objärtel, Mariliis Vaht, Tiit Nikopensius, Andres Metspalu, Külli Kingo
Acne vulgaris is a common chronic skin disorder presenting with comedones, cystic structures forming within the distal hair follicle, and in most cases additionally with inflammatory skin lesions on the face and upper torso. We performed a genome-wide association study and meta-analysis of data from 34,422 individuals with acne and 364,991 controls from three independent European-ancestry cohorts. We replicated 19 previously implicated genome-wide significant risk loci and identified four novel loci [11q12...
March 16, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36922632/exome-sequencing-in-individuals-with-congenital-anomalies-of-the-kidney-and-urinary-tract-cakut-a-single-center-experience
#10
JOURNAL ARTICLE
Korbinian M Riedhammer, Jasmina Ćomić, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini, Aleksandra Paripovic, Natasa Stajic, Thomas Meitinger, Valbona Nushi-Stavileci, Riccardo Berutti, Matthias C Braunisch, Julia Hoefele
Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic disorder and can lead to end-stage kidney failure. A monogenic cause can be identified in ~12% of affected individuals. This study investigated a single-center CAKUT cohort analyzed by exome sequencing (ES). Emphasis was placed on the question whether diagnostic yield differs between certain CAKUT phenotypes (e.g., bilateral kidney affection, unilateral kidney affection or only urinary tract affection)...
March 16, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36922631/two-sporadic-cases-of-childhood-onset-hailey-hailey-disease-with-superimposed-mosaicism
#11
JOURNAL ARTICLE
Yasuhiko Asahina, Umi Tahara, Satomi Aoki, Kazuhiko Nakabayashi, Chiharu Tateishi, Daisuke Hayashi, Masayuki Amagai, Daisuke Tsuruta, Akiharu Kubo
A prenatal second-hit genetic change that occurs on the wild-type allele in an embryo with a congenital pathogenic variant allele results in mosaicism of monoallelic and biallelic defect of the gene, which is called superimposed mosaicism. Superimposed mosaicism of Hailey-Hailey disease (HHD) has been demonstrated in one familial case. Here, we report two unrelated HHD cases with superimposed mosaicism: a congenital monoallelic pathogenic variant of ATP2C1, followed by a postzygotic copy-neutral loss of heterozygosity...
March 15, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36879111/skewed-x-chromosome-inactivation-in-unsolved-neurodevelopmental-disease-cases-can-guide-re-evaluation-for-x-linked-genes
#12
JOURNAL ARTICLE
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Enza Ferrero, Elena Sukarova-Angelovska, Silvia Carestiato, Paola Salmin, Antonina Rinninella, Anthony Battaglia, Luca Bertoli, Antonio Fadda, Flavia Palermo, Diana Carli, Alessandro Mussa, Paola Dimartino, Alessandro Bruselles, Tawfiq Froukh, Giorgia Mandrile, Barbara Pasini, Silvia De Rubeis, Joseph D Buxbaum, Tommaso Pippucci, Marco Tartaglia, Marzia Rossato, Massimo Delledonne, Giovanni Battista Ferrero, Alfredo Brusco
Despite major advances in genome technology and analysis, >50% of patients with a neurodevelopmental disorder (NDD) remain undiagnosed after extensive evaluation. A point in case is our clinically heterogeneous cohort of NDD patients that remained undiagnosed after FRAXA testing, chromosomal microarray analysis and trio exome sequencing (ES). In this study, we explored the frequency of non-random X chromosome inactivation (XCI) in the mothers of male patients and affected females, the rationale being that skewed XCI might be masking previously discarded genetic variants found on the X chromosome...
March 6, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36864115/evaluation-and-pilot-testing-of-a-multidisciplinary-model-of-care-to-mainstream-genomic-testing-for-paediatric-inborn-errors-of-immunity
#13
JOURNAL ARTICLE
Tatiane Yanes, Anna Sullivan, Pasquale Barbaro, Kristian Brion, Georgina Hollway, Jane Peake, Peter McNaughton
Molecular diagnosis of paediatric inborn errors of immunity (IEI) influences management decisions and alters clinical outcomes, through early use of targeted and curative therapies. The increasing demand for genetic services has resulted in growing waitlists and delayed access to vital genomic testing. To address this issue, the Queensland Paediatric Immunology and Allergy Service, Australia, developed and evaluated a mainstreaming model of care to support point-of-care genomic testing for paediatric IEI. Key features of the model of care included a genetic counsellor embedded in the department, state-wide multidisciplinary team meetings, and variant prioritisation meetings to review whole exome sequencing (WES) data...
March 3, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36828924/loss-of-function-of-adnp-by-an-intragenic-inversion
#14
JOURNAL ARTICLE
Mathieu Georget, Elodie Lejeune, Julien Buratti, Euphrasie Servant, Eric le Guern, Delphine Heron, Boris Keren, Jean-Madeleine de Sainte Agathe
ADNP is a well-known gene implicated in intellectual disability and its molecular spectrum consists mainly in loss of function variant in the ADNP last and largest exon. Here, we report the first description of a patient with intellectual disability identified with an intragenic inversion in ADNP. RNAseq experiment showed a splice skipping of the inversed exons. Moreover, in-silico analysis of initiating ATGs in the mutated transcript using contextual Kozak score suggested that several initiating ATGs were likely used to translate poisonous out-of-frame ORFs and would lead to the suppression of any in-frame rescuing translation, thereby causing haploinsufficiency...
February 24, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36828923/genome-sequencing-based-discovery-of-a-novel-deep-intronic-apc-pathogenic-variant-causing-exonization
#15
JOURNAL ARTICLE
Anikó Bozsik, Henriett Butz, Vince Kornél Grolmusz, Csaba Polgár, Attila Patócs, János Papp
Familial adenomatous polyposis (FAP) is a hereditary cancer syndrome that occurs as a result of germline mutations in the APC gene. Despite a clear clinical diagnosis of FAP, a certain proportion of the APC variants are not readily detectable through conventional genotyping routines. We accomplished genome sequencing in duo of the disease-affected proband and non-affected sibling followed by in silico predictions and a series of RNA-based assays clarifying variant functionality. By prioritizing variants obtained by genome sequencing, we discovered the novel deep intronic alteration APC:c...
February 24, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36807342/kidneynetwork-using-kidney-derived-gene-expression-data-to-predict-and-prioritize-novel-genes-involved-in-kidney-disease
#16
JOURNAL ARTICLE
Floranne Boulogne, Laura R Claus, Henry Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, Shuang Li, Harm-Jan Westra, Bert van der Zwaag, Franka van Reekum, Dana Sierks, Ria Schönauer, Zhigui Li, Emilia K Bijlsma, Willem Jan W Bos, Jan Halbritter, Nine V A M Knoers, Whitney Besse, Patrick Deelen, Lude Franke, Albertien M van Eerde
Genetic testing in patients with suspected hereditary kidney disease may not reveal the genetic cause for the disorder as potentially pathogenic variants can reside in genes that are not yet known to be involved in kidney disease. We have developed KidneyNetwork, that utilizes tissue-specific expression to inform candidate gene prioritization specifically for kidney diseases. KidneyNetwork is a novel method constructed by integrating a kidney RNA-sequencing co-expression network of 878 samples with a multi-tissue network of 31,499 samples...
February 20, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36807341/perceived-benefits-and-barriers-to-implementing-precision-preventive-care-results-of-a-national-physician-survey
#17
JOURNAL ARTICLE
Jason L Vassy, Benjamin J Kerman, Elizabeth J Harris, Amy A Lemke, Marla L Clayman, Ashley A Antwi, Katharine MacIsaac, Thomas Yi, Charles A Brunette
Polygenic risk scores (PRS) may improve risk-stratification in preventive care. Their clinical implementation will depend on primary care physicians' (PCPs) uptake. We surveyed PCPs in a national physician database about the perceived clinical utility, benefits, and barriers to the use of PRS in preventive care. Among 367 respondents (participation rate 96.3%), mean (SD) age was 54.9 (12.9) years, 137 (37.3%) were female, and mean (SD) time since medical school graduation was 27.2 (13.3) years. Respondents reported greater perceived utility for more clinical action (e...
February 20, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36797467/a-biallelic-variant-of-dcaf13-implicated-in-a-neuromuscular-disorder-in-humans
#18
JOURNAL ARTICLE
Humera Manzoor, Hafsa Zahid, Christopher A Emerling, Kishore R Kumar, Hafiz Muhammad Jafar Hussain, Go Hun Seo, Muhammad Wajid, Sadaf Naz
Neuromuscular disorders encompass a broad range of phenotypes and genetic causes. We investigated a consanguineous family in which multiple patients had a neuromuscular disorder characterized by a waddling gait, limb deformities, muscular weakness and facial palsy. Exome sequencing was completed on the DNA of three of the four patients. We identified a novel missense variant in DCAF13, ENST00000612750.5, NM_015420.7, c.907 G > A;p.(Asp303Asn), ENST00000616836.4, NM_015420.6, c.1363 G > A:p...
February 17, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36797469/correction-dutch-pharmacogenetics-working-group-dpwg-guideline-for-the-gene-drug-interaction-between-ugt1a1-and-irinotecan
#19
Emma C Hulshof, Maarten J Deenen, Marga Nijenhuis, Bianca Soree, Nienke J de Boer-Veger, Anne-Marie Buunk, Elisa J F Houwink, Arne Risselada, Gerard A P J M Rongen, Ron H N van Schaik, Daan J Touw, Jan van der Weide, Roos van Westrhenen, Vera H M Deneer, Henk-Jan Guchelaar, Jesse J Swen
No abstract text is available yet for this article.
February 16, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36797468/smad6-variants-in-nonsyndromic-craniosynostosis
#20
COMMENT
Andrew T Timberlake
No abstract text is available yet for this article.
February 16, 2023: European Journal of Human Genetics: EJHG
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