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Journals
Genetics in Medicine : Officia...
Genetics in Medicine : Official Journal of the American College of Medical Genetics
#1
JOURNAL ARTICLE
Laurie H Seaver, Perry Chan, Lynn D Fleisher, Samuel J Huang, Susan D Klugman, Dena R Matalon
No abstract text is available yet for this article.
September 5, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#2
LETTER
Jennifer Micham, Marshall Summar, Debra Regier, Colleen Lawerence, Deepika Burkhardt
No abstract text is available yet for this article.
September 3, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#3
JOURNAL ARTICLE
Rachel Notestine, Claire N Singletary, Meagan Choates, Stephanie Gandomi, Molly Daniels, Rebecca Lunstroth, Quinn Stein
PURPOSE: Healthcare fraud comprises a sizable portion of United States healthcare expenditure and inflicts undue burden on payors, patients, and the healthcare system overall. The genetic testing industry is rapidly growing which propagates opportunities for healthcare fraud. Although federal organizations have highlighted it as an issue, there is limited research exploring genetic testing fraud. METHODS: A retrospective review of federal websites, news articles, and a legal database resulted in 42 cases of fraud involving outpatient genetic testing published between February 2019 and December 2023...
September 3, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#4
JOURNAL ARTICLE
Jenny Lord, Carolina J Oquendo, Htoo A Wai, John G Holloway, Alexandra Martin-Geary, Alexander Jm Blakes, Elena Arciero, Silvia Domcke, Anne-Marie Childs, Karen Low, Julia Rankin, Diana Baralle, Hilary C Martin, Nicola Whiffin
PURPOSE: Identifying pathogenic non-coding variants is challenging. A single protein-altering variant is often identified in a recessive gene in individuals with developmental disorders (DD), but the prevalence of pathogenic non-coding 'second hits' in trans with these is unknown. METHODS: In 4,073 genetically undiagnosed rare disease trio probands from the 100,000 Genomes project, we identified rare heterozygous protein-altering variants in recessive DD-associated genes...
September 3, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#5
JOURNAL ARTICLE
Hadley Stevens Smith, Caryn Kseniya Rubanovich, Jill Oliver Robinson, Ariel N Levchenko, Sarah A Classen, Janet Malek, Adam H Buchanan, Barbara Biesecker, Kyle B Brothers, Benjamin S Wilfond, Christine Rini, Cinnamon S Bloss, Amy L McGuire, Sara J Knight
INTRODUCTION: As population-based screening programs to identify genetic conditions in adults using genomic sequencing (GS) are increasingly available, validated patient-centered outcome measures are needed to understand participants' experience. We aimed to develop and validate an instrument to assess the perceived utility of GS in the context of adult screening. METHODS: Informed by a five-domain conceptual model, we used a five-step approach to instrument development and validation: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity...
August 10, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#6
JOURNAL ARTICLE
Jessica Dawson, Chris Kay, Hailey Findlay Black, Stephanie Bortnick, Kyla Javier, Qingwen Xia, Akshdeep Sandhu, Christina Buchanan, Virginia Hogg, Florence C F Chang, Jun Goto, Larissa Arning, Carsten Saft, Emilia K Bijlsma, Huu P Nguyen, Richard Roxburgh, Michael R Hayden
PURPOSE: To determine the frequency and clinical impact of loss-of-interruption (LOI) and duplication-of-interruption (DOI) modifier variants of the HTT CAG and CCG repeat in a cohort of individuals with Huntington disease (HD). METHODS: We screened symptomatic HD participants from the UBC HD Biobank and five research sites for sequence variants. Following variant identification, we examined the clinical impact and frequency in the reduced penetrance range. RESULTS: Participants with CAG-CCG LOI and CCG LOI variants have a similar magnitude of earlier onset of HD, by 12...
August 10, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#7
JOURNAL ARTICLE
Gioia Mastromoro, Claudia Santoro, Marialetizia Motta, Ugo Sorrentino, Paola Daniele, Cristina Peduto, Francesco Petrizzelli, Martina Tripodi, Valentina Pinna, Mariateresa Zanobio, Giovannina Rotundo, Emanuele Bellacchio, Francesca Lepri, Antonella Farina, Maria Cecilia D'Asdia, Francesca Piceci-Sparascio, Tommaso Biagini, Antonio Petracca, Marco Castori, Daniela Melis, Maria Accadia, Giovanna Traficante, Luigi Tarani, Paolo Fontana, Fabio Sirchia, Roberto Paparella, Aurora Currò, Francesco Benedicenti, Iris Scala, Maria Lisa Dentici, Chiara Leoni, Valentina Trevisan, Antonella Cecconi, Sandra Giustini, Antonio Pizzuti, Leonardo Salviati, Antonio Novelli, Giuseppe Zampino, Martin Zenker, Maurizio Genuardi, Maria Cristina Digilio, Laura Papi, Silverio Perrotta, Vincenzo Nigro, Elisabeth Castellanos, Tommaso Mazza, Eva Trevisson, Marco Tartaglia, Giulio Piluso, Alessandro De Luca
PURPOSE: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function (LoF) LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs). METHODS: 849 unrelated participants with multiple CaLMs, lacking pathogenic/likely pathogenic NF1 and SPRED1 variants, underwent RASopathy gene panel sequencing. Data on 125 individuals with heterozygous LZTR1 variants were collected for characterizing their clinical features and the associated molecular spectrum...
August 10, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#8
JOURNAL ARTICLE
Sateesh Maddirevula, Mohammad Shagrani, Ae-Ri Ji, Christopher R Horne, Samuel N Young, Lucy J Mather, Mashael Alqahtani, Colin McKerlie, Geoffrey Wood, Paul K Potter, Firdous Abdulwahab, Tarfa AlSheddi, Wendy L van der Woerd, Koen L I van Gassen, Dalal AlBogami, Kishwer Kumar, Ali Syed Muhammad Akhtar, Hiba Binomar, Hadeel Almanea, Eissa Faqeih, Sabine A Fuchs, John W Scott, James M Murphy, Fowzan S Alkuraya
PURPOSE: Pediatric cholestasis is the phenotypic expression of clinically and genetically heterogeneous disorders of bile acid synthesis and flow. Although a growing number of monogenic causes of pediatric cholestasis have been identified, the majority of cases remain undiagnosed molecularly. METHODS: In a cohort of 299 pediatric participants (279 families) with intrahepatic cholestasis, we performed exome sequencing as a first-tier diagnostic test. RESULTS: A likely causal variant was identified in 135 families (48...
August 9, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#9
JOURNAL ARTICLE
Robert D Morgan, George J Burghel, Nicola Flaum, Helene Schlecht, Andrew R Clamp, Jurjees Hasan, Claire Mitchell, Zena Salih, Sarah Moon, Martin Hogg, Rosemary Lord, Claire Forde, Fiona Lalloo, Emma R Woodward, Emma J Crosbie, Stephen S Taylor, Gordon C Jayson, D Gareth R Evans
PURPOSE: The prevalence of germline pathogenic variants (PVs) in homologous recombination repair (HRR) and Lynch syndrome (LS) genes in ovarian cancer (OC) is uncertain. METHODS: An observational study reporting the detection rate of germline PVs in HRR and LS genes in all OC cases tested in the North West Genomic Laboratory Hub between September 1996 and May 2024. Effect sizes are reported using odds ratios (ORs) and 95% confidence intervals (95% CI) for unselected cases tested between April 2021 and May 2024 versus 50703 controls from the Breast Cancer Risk after Diagnostic Gene Sequencing study...
July 31, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#10
JOURNAL ARTICLE
Amir Hossein Saeidian, Michael E March, Leila Youssefian, Deborah J Watson, Esha Bhandari, Xiang Wang, Xiaonan Zhao, Nichole Marie Owen, Alanna Strong, Margaret H Harr, Elizabeth Bhoj, Elaine Zackai, Hassan Vahidnezhad, Johann Gudjonsson, Stephen D Cederbaum, Joshua L Deignan, Joseph Glessner, Wayne W Grody, Hakon Hakonarson
PURPOSE: Clinical next-generation sequencing is an effective approach for identifying pathogenic sequence variants that are medically actionable for participants and families but are not associated with the participant's primary diagnosis. These variants are called secondary findings (SFs). According to the literature, there is no report of the types and frequencies of SFs in a large pediatric cohort which includes substantial African-American participants. We sought to investigate the types (including American College of Medical Genetics and Genomics [ACMG] and non-ACMG recommended gene lists), frequencies, and rates of SFs, as well as the effects of SF disclosure on the participants and families of a large pediatric cohort at the Center for Applied Genomics at The Children's Hospital of Philadelphia (CHOP)...
July 30, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#11
JOURNAL ARTICLE
Giulia McCorkell, Amy Nisselle, Donna Halton, Sophie E Bouffler, Chirag Patel, John Christodoulou, Fran Maher, Belinda McClaren, Gemma R Brett, Sarah Sandaradura, Kirsten Boggs, Michelle G de Silva, Fiona Lynch, Ivan Macciocca, Elly Lynch, Melissa Martyn, Stephanie Best, Zornitza Stark, Clara L Gaff
PURPOSE: To develop and evaluate a scalable national program to build confidence, competence and capability in the use of rapid genomic testing in the acute pediatric setting. METHODS: We used theory-informed approaches to design a modular, adaptive program of blended learning aimed at diverse professional groups involved in acute pediatric care. The program comprised four online learning modules and an online workshop and was centered on case-based learning. We evaluated the program using the Kirkpatrick four-level model of training evaluation and report our findings using the RISE2 guidelines for genomics education and evaluation...
July 30, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#12
REVIEW
Shuxiang Goh, Lavvina Thiyagarajan, Tracy Dudding-Byth, Pinese Mark, Edwin P Kirk
PURPOSE: Many copy number variants (CNVs) are reported to cause a variety of neurodevelopmental disabilities including intellectual disability, developmental delay, autism and other phenotypes with incomplete penetrance, so not all individuals with a pathogenic CNV are affected. Penetrance estimates vary between studies. A systematic review was conducted to clarify CNV penetrance for 83 recurrent CNVs. METHODS: A systematic review using PRISMA guidelines (PROSPERO #CRD42021253955) was conducted to identify penetrance estimates for CNVs associated with neurodevelopment...
July 30, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#13
JOURNAL ARTICLE
Sadegheh Haghshenas, Audrey Putoux, Jack Reilly, Michael A Levy, Raissa Relator, Sourav Ghosh, Jennifer Kerkhof, Haley McConkey, Patrick Edery, Gaetan Lesca, Alicia Besson, Christine Coubes, Marjolaine Willems, Nathalie Ruiz-Pallares, Mouna Barat-Houari, Eduardo F Tizzano, Irene Valenzuela, Quentin Sabbagh, Jill Clayton-Smith, Adam Jackson, James O'Sullivan, Rebecca Bromley, Siddharth Banka, David Genevieve, Bekim Sadikovic
PURPOSE: Valproic acid or valproate is an effective antiepileptic drug; however, embryonic exposure to valproate can result in a teratogenic disorder referred to as fetal valproate syndrome (FVS, OMIM #609442). Currently there are no diagnostic biomarkers for the condition. This study aims to define an episignature biomarker for teratogenic antenatal exposure to valproate. METHODS: DNA extracted from peripheral blood of individuals with teratogenic antenatal exposure to valproate was processed using DNA methylation microarrays...
July 29, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#14
JOURNAL ARTICLE
A S H A N Talati, D I V Y A P Mallampati, E M I L Y E Hardisty, K E L L Y L Gilmore, N E E T A L Vora
PURPOSE: To describe the association between geographic location of residence and use of aneuploidy screening or prenatal genetic counseling, and how it is modified by maternal race and ethnicity. METHODS: Retrospective cohort of individuals at a tertiary-care center between 2017-19. County of residence was classified as rural or metropolitan based on US Office of Management and Budget 2019 definitions. Maternal race and ethnicity were self-identified. Our composite outcome was defined as use of aneuploidy screening or genetic counseling visit...
July 20, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#15
JOURNAL ARTICLE
Alanna Strong, Michael E March, Christopher J Cardinale, Yichuan Liu, Mark R Battig, Livia Sertori Finoti, Leticia S Matsuoka, Deborah Watson, Sindura Sridhar, James F Jarrett, India Cannon, Dong Li, Elizabeth Bhoj, Elaine H Zackai, Elizabeth B Rand, Tara Wenger, Bruce B Lerman, Amy Shikany, K Nicole Weaver, Hakon Hakonarson
PURPOSE: Hardikar syndrome (HS, MIM #301068) is a female-specific multiple congenital anomaly syndrome characterized by retinopathy, orofacial clefting, aortic coarctation, biliary dysgenesis, genitourinary malformations, and intestinal malrotation. We previously showed that heterozygous nonsense and frameshift variants in MED12 cause HS. The phenotypic spectrum of disease and the mechanism by which MED12 variants cause disease is unknown. We aim to expand the phenotypic and molecular landscape of HS and elucidate the mechanism by which MED12 variants cause disease...
July 20, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#16
JOURNAL ARTICLE
Nandini G Sandran, Dani L Fornarino, Mark A Corbett, Thessa Kroes, Alison E Gardner, Alastair H MacLennan, Jozef Gécz, Clare L van Eyk
PURPOSE: The gold standard for identification of post-zygotic variants (PZVs) is droplet digital PCR (ddPCR) or high-depth sequencing across multiple tissues types. These approaches are yet to be systematically implemented for monogenic disorders. We developed PZV detection pipelines for correct classification of de novo variants. METHOD: Our pipelines detect PZV in parents (gonosomal mosaicism "pGoM") and children (somatic mosaicism, "M3"). We applied them to research exome sequencing (ES) data from The Australian Cerebral Palsy Biobank (ACPB, n=145 trios) and Simons Simplex Collection (SSC, n=405 families)...
July 19, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#17
JOURNAL ARTICLE
Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam, Odelia Chorin, Annick Rothschild, Ortal Barel, Milena Mariani, Maria Iascone, Han Xue, Jing Huang, Cyril Mignot, Boris Keren, Virginie Saillour, Annelise Y Mah-Som, Stephanie Sacharow, Farrah Rajabi, Carrie Costin, Shinya Yamamoto, Oguz Kanca, Hugo J Bellen, Jill A Rosenfeld, Christina G S Palmer, Stanley F Nelson, Michael F Wangler, Julian A Martinez-Agosto
PURPOSE: Epigenetic dysregulation has been associated with many inherited disorders. RBBP5 (HGNC:9888) encodes a core member of the protein complex that methylates histone 3 lysine-4 (H3K4) and has not been implicated in human disease. METHODS: We identify five unrelated individuals with de novo heterozygous variants in RBBP5. Three nonsense/frameshift and two missense variants were identified in probands with neurodevelopmental symptoms including global developmental delay, intellectual disability, microcephaly, and short stature...
July 18, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#18
JOURNAL ARTICLE
Alexandre Buffet, Mathilde Filser, Alexandra Bruel, Rodolphe Dard, Thibaud Quibel, Charlotte Dubucs, Theresa Kwon, Pauline Le Tanno, Julien Thevenon, Alban Ziegler, Lise Allard, Vincent Guigonis, Jean-Jacques Roux, Laurence Heidet, Claire Rougeulle, Olivia Boyer, Rosa Vargas-Poussou, Marguerite Hureaux
PURPOSE: Transient Bartter syndrome related to pathogenic variants of MAGED2 is the most recently described antenatal Bartter syndrome. Despite its transient nature, it is the most severe form of Bartter syndrome in the perinatal period. Our aim was to describe 14 new cases and to try to explain the incomplete penetrance in women. METHODS: We report on 14 new cases, including 3 females, and review the 40 cases described to date. We tested the hypothesis that MAGED2 is transcriptionally regulated by differential methylation of its CpG-rich promotor by pyrosequencing of DNA samples extracted from fetal and adult leukocytes and kidney samples...
July 18, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#19
JOURNAL ARTICLE
Morten Alstrup, Fabrizia Cesca, Alicja Krawczun-Rygmaczewska, Celia López-Menéndez, Julia Pose-Utrilla, Filip Christian Castberg, Mia Ortved Bjerager, Candice Finnila, Michael C Kruer, Somayeh Bakhtiari, Sergio Padilla-Lopez, Linda Manwaring, Boris Keren, Alexandra Afenjar, Daniele Galatolo, Roberta Scalise, Fillippo M Santorelli, Amelle Shillington, Myriam Vezain, Jelena Martinovic, Cathy Stevens, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Isabelle Thiffault, Tomi Pastinen, Kristin Baranano, Angela Lee, Jorge Granadillo, Megan R Glassford, Catherine E Keegan, Nicole Matthews, Pascale Saugier-Veber, Teresa Iglesias, Elsebet Østergaard
BACKGROUND: SINO syndrome (Spastic paraplegia, Intellectual disability, Nystagmus and Obesity) is a rare autosomal dominant condition caused by heterozygous variants in KIDINS220. A total of 12 individuals are reported, comprising eight with SINO and four with an autosomal recessive condition attributed to bi-allelic KIDINS220 variants. METHODS: In our international cohort, we have comprised 14 individuals, carrying 13 novel pathogenic KIDINS220 variants in heterozygous form...
July 18, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#20
JOURNAL ARTICLE
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
PURPOSE: To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). METHODS: We coupled phenotyping with exome or genome sequencing of 467 probands (550 affected and 1108 total individuals) with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and de novo variants to identify rare candidate single nucleotide variants, insertion/deletions, and structural variants disrupting protein-coding regions...
July 17, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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