Review
Ophthalmology
Michael P. Fautsch, Eric D. Wieben, Keith H. Baratz, Nihar Bhattacharyya, Amanda N. Sadan, Nathaniel J. Hafford-Tear, Stephen J. Tuft, Alice E. Davidson
Summary: FECD is a common cause of heritable visual loss in the elderly, with an association to an intronic CTG trinucleotide repeat expansion in the TCF4 gene. Proposed mechanisms for disease onset include TCF4 dysregulation, toxic gain-of-function from TCF4 repeat-containing RNA, toxic gain-of-function from RAN translation, and somatic instability of CTG18.1, but the relative contribution of each remains unknown.
PROGRESS IN RETINAL AND EYE RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, Laetitia Monteil, Mathilde Nizon, Pierre Boisseau, Sandra Mercier, Janet Ziegle, John Harting, Cheryl Heiner, Genevieve Gourdon, Stephanie Tome
Summary: DM1 is a complex and variable genetic disorder caused by unstable CTG repeat expansions, with significant implications for prognosis and genetic counseling. Innovative sequencing technologies show promise in improving characterization of expanded alleles in DM1 patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Ophthalmology
Gozde Sahin Vural, Hilmi Bolat
Summary: This study evaluated the relationship between the number of trinucleotide repeats (TNR) in late-onset Fuchs corneal endothelial dystrophy (FCED) and compared the endothelial properties among FCED patients, first-degree relatives, and controls. The study found that FCED patients and relatives had lower corneal thickness and endothelial cell density compared to controls, and significant endothelial cell morphological changes were observed. Additionally, the number of TNR in FCED patients was correlated with the corneal endothelial properties in relatives.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Shazia Ashraf, Neha Deshpande, Shivakumar Vasanth, Geetha Melangath, Raymond J. Wong, Yan Zhao, Marianne O. Price, Francis W. Price Jr, Ula V. Jurkunas
Summary: Fuchs Endothelial Corneal Dystrophy (FECD) is a common cause of corneal endothelial degeneration and is associated with CTG repeat expansion in TCF4 gene. Accumulation of nuclear and mitochondrial DNA damage was observed in FECD, with mtDNA damage being prominent in the UVA-induced FECD mouse model. Impaired DNA repair pathways were identified in FECD specimens through analysis of gene expression profiles. These findings suggest that DNA repair dysfunction may contribute to the increased DNA damage seen in FECD.
EXPERIMENTAL EYE RESEARCH
(2023)
Article
Multidisciplinary Sciences
Eric D. Wieben, Ross A. Aleff, Tommy A. Rinkoski, Keith H. Baratz, Shubham Basu, Sanjay Patel, Leo J. Maguire, Michael P. Fautsch
Summary: Analysis of CTG TNR expansion in FECD patients revealed significantly longer repeat lengths in the corneal endothelium compared to leukocytes.
Article
Ophthalmology
Andreas Viberg, Ida Maria Westin, Irina Golovleva, Berit Bystrom
Summary: In northern Sweden, almost 90% of FECD patients have a (CTG)(n) repeat expansion in the TCF4 gene, with repeat length being associated with disease severity. Additionally, FECD cases without a TCF4 repeat expansion have a higher rate of ocular surgery compared to those with a repeat expansion.
ACTA OPHTHALMOLOGICA
(2022)
Review
Ophthalmology
Stephan Ong Tone, Viridiana Kocaba, Myriam Bohm, Adam Wylegala, Tomas L. White, Ula V. Jurkunas
Summary: Fuchs endothelial corneal dystrophy (FECD) is the most common primary corneal endothelial dystrophy characterized by the decline of corneal endothelial cells and the formation of extracellular matrix excrescences, leading to corneal edema and loss of vision. It is a complex and heterogeneous genetic disease with a higher incidence in women, caused by a combination of genetic and environmental factors.
PROGRESS IN RETINAL AND EYE RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Ida Maria Westin, Mattias Landfors, Antonios Giannopoulos, Andreas Viberg, Pia Osterman, Berit Bystrom, Sofie Degerman, Irina Golovleva
Summary: Late-onset Fuchs endothelial corneal dystrophy (FECD) is associated with CTG18.1 expansions in the TCF4 gene, causing specific methylation changes in corneal endothelium. Gene expression analysis showed altered expression of AQP1, F5, and THBD in FECD, while age-dependent hypomethylation was observed in healthy corneal endothelium.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2023)
Article
Ophthalmology
Jiaxin Hu, Xin Gong, Samantha T. Johnson, David R. Corey, V. Vinod Mootha
Summary: In the United States, the majority of Fuchs' endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the TCF4 gene. This study aimed to detect the presence of RNA foci in different anterior segment cell types and assess their molecular impact. The results showed that CUG repeat RNA foci are most prevalent in corneal endothelial cells and less detectable in other cell types.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Biology
Hironori Uehara, Xiaohui Zhang, Felipe Pereira, Siddharth Narendran, Susie Choi, Sai Bhuvanagiri, Jinlu Liu, Sangeetha Ravi Kumar, Austin Bohner, Lara Carroll, Bonnie Archer, Yue Zhang, Wei Liu, Guangping Gao, Jayakrishna Ambati, Albert S. Jun, Balamurali K. Ambati
Summary: This study demonstrates successful gene editing in a mouse model of early-onset Fuchs' endothelial corneal dystrophy using CRISPR/Cas9 technology. A single intraocular injection of adenovirus efficiently knocked down mutant gene expression in corneal endothelial cells and restored visual function.
Article
Ophthalmology
Cari W. Nealon, Christopher R. Halladay, Bryan Gorman, Piana P. Simpson, David L. Roncone, Rachael A. Canania, Scott R. Anthony, Lea N. Sawicki Rogers, Jenna M. Leber, Jacquelyn N. Dougherty, Jessica C. Cooke Bailey, Dana M. Crawford, Jack Sullivan, Anat Galor, Wen-Chih B. Wu, Paul H. Greenberg, Sudha K. Million Vet Program, Jonathan S. Lass, Sudha Iyengar, Neal Peachey
Summary: The aim of this study was to assess the risk factors associated with Fuchs endothelial corneal dystrophy (FECD), including demographic variables and other health conditions. Data from the Department of VA Million Veteran Program cohort were used to develop a FECD case-control algorithm and analyze the association with risk factors. The study found that being a FECD case was associated with female sex, European genetic ancestry, and a greater number of comorbidities, as well as specific diagnostic codes and laboratory values, including diabetes mellitus (DM).
Article
Medicine, General & Internal
Orlando Oezer, Mert Mestanoglu, Antonia Howaldt, Thomas Clahsen, Petra Schiller, Sebastian Siebelmann, Niklas Reinking, Claus Cursiefen, Bjoern Bachmann, Mario Matthaei
Summary: This study investigated the association of central subendothelial geographic deposits (FL) with edema formation in advanced Fuchs endothelial corneal dystrophy (FECD) and analyzed their localization. The results showed that the FL was associated with increased corneal thickness primarily in the central and inferotemporal region. These findings provide important information for the evaluation and treatment decision-making for FECD patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Lubica Dudakova, Pavlina Skalicka, Alice E. Davidson, Amanda N. Sadan, Monika Chylova, Helena Jahnova, Nicole Anteneova, Marketa Tesarova, Tomas Honzik, Petra Liskova
Summary: This study aimed to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and investigate the potential genetic causes of corneal endothelial cell dysfunction. Exome sequencing and genotyping revealed no pathogenic variants in genes associated with corneal endothelial dystrophies, while a repeat expansion in TCF4 gene and mtDNA deletion were found in the patient with KSS spectrum. Rare ocular findings included marked corneal oedema, emphasizing the complex manifestations of ocular abnormalities in KSS spectrum.
Review
Ophthalmology
Xuerui Liu, Tao Zheng, Chuchu Zhao, Yi Zhang, Hanruo Liu, Liyuan Wang, Ping Liu
Summary: Fuchs endothelial corneal dystrophy is a hereditary disease characterized by a decrease in endothelial cells and thickening of Descemet's membrane. Currently, apart from corneal transplantation, there is no other effective treatment available.
Article
Ophthalmology
Nicolas J. Heckenlaible, Chen Dun, Christina Prescott, Allen O. Eghrari, Fasika Woreta, Martin A. Makary, Divya Srikumaran
Summary: The study aimed to identify factors associated with the receipt of EK and PK in patients with FECD. The findings revealed that gender and racial background are important factors influencing the likelihood of receiving EK and PK.
Article
Ophthalmology
Bohdan Kousal, Filip Majer, Hana Vlaskova, Lenka Dvorakova, Lenka Piherova, Martin Meliska, Hana Langrova, Tomas Palecek, Milos Kubanek, Alice Krebsova, Jiri Gurka, Veronika Stara, Michel Michaelides, Tomas Kalina, Jakub Sikora, Petra Liskova
Summary: DD patients with advanced cardiomyopathy showed pigmentary retinopathy, visual field loss, and altered autofluorescence. Retinal pathology severity increased with age, with marked cone-rod involvement over time. Detailed ocular examination can be a sensitive screening tool for identifying carriers ofLAMP2pathogenic variants.
ACTA OPHTHALMOLOGICA
(2021)
Review
Ophthalmology
Michael P. Fautsch, Eric D. Wieben, Keith H. Baratz, Nihar Bhattacharyya, Amanda N. Sadan, Nathaniel J. Hafford-Tear, Stephen J. Tuft, Alice E. Davidson
Summary: FECD is a common cause of heritable visual loss in the elderly, with an association to an intronic CTG trinucleotide repeat expansion in the TCF4 gene. Proposed mechanisms for disease onset include TCF4 dysregulation, toxic gain-of-function from TCF4 repeat-containing RNA, toxic gain-of-function from RAN translation, and somatic instability of CTG18.1, but the relative contribution of each remains unknown.
PROGRESS IN RETINAL AND EYE RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, Laetitia Monteil, Mathilde Nizon, Pierre Boisseau, Sandra Mercier, Janet Ziegle, John Harting, Cheryl Heiner, Genevieve Gourdon, Stephanie Tome
Summary: DM1 is a complex and variable genetic disorder caused by unstable CTG repeat expansions, with significant implications for prognosis and genetic counseling. Innovative sequencing technologies show promise in improving characterization of expanded alleles in DM1 patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biology
Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Helene Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O'Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi
Summary: The study provides insights into the genetic basis of keratoconus, identifying multiple genomic loci associated with the disease and implicating genetic pathways related to collagen matrix integrity and cell differentiation. This has potential implications for future diagnostic tests and treatments.
COMMUNICATIONS BIOLOGY
(2021)
Article
Ophthalmology
Lubica Dudakova, Stephen Tuft, Sek-Shir Cheong, Pavlina Skalicka, Jana Jedlickova, Marek Fichtl, Martin Hlozanek, Ales Filous, Manuela Vaneckova, Andrea L. Vincent, Alison J. Hardcastle, Alice E. Davidson, Petra Liskova
Summary: The study identified nine pathogenic or likely pathogenic variants and one variant of uncertain significance in the CHRDL1 gene, of which eight were novel. Some individuals with MGC1 showed ocular findings such as pigmentary glaucoma, unilateral posterior corneal vesicles, unilateral keratoconus, and unilateral Fuchs heterochromic iridocyclitis that were not previously associated with the condition. Additionally, some heterozygous female carriers of CHRDL1 pathogenic variants had reduced corneal thickness, indicating a possible mild phenotypic feature.
ACTA OPHTHALMOLOGICA
(2022)
Article
Ophthalmology
Petra Liskova, Nathaniel J. Hafford-Tear, Pavlina Skalicka, Frantisek Malinka, Jana Jedlickova, L'ubica Dud'akova, Nikolas Pontikos, Alice E. Davidson, Stephen Tuft
Summary: This study found no evidence that posterior corneal vesicles (PCVs) share the same genetic background as posterior polymorphous corneal dystrophy (PPCD). PCVs is a mild, non-progressive condition with no requirement for long-term review, although subsequent cataract surgery can lead to corneal edema.
ACTA OPHTHALMOLOGICA
(2022)
Article
Genetics & Heredity
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Catala-Mora, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Jones, Herbert Jaegle, Andreas R. Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell-Sampol, Andre Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy J. L. de Ravel, Charlotte M. Reiff, Agnes B. Renner, Thomas Rosenberg, Guenther Rudolph, Roberto Salati, E. Cumhur Sener, Paul A. Sieving, Franco Stanzial, Elias Traboulsi, Stephen H. Tsang, Balazs Varsanyi, Richard G. Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Summary: This study provides a comprehensive overview of the CNGA3 variant spectrum in 1060 genetically confirmed ACHM patients, with 385 of them carrying likely disease-causing variants in CNGA3. By combining their own genetic data with literature and public database records, the researchers extended the CNGA3 variant spectrum to a total of 316 variants, with 244 of them interpreted as likely disease-causing. They also reported 48 novel likely disease-causing variants, with 24 of them being missense substitutions. Extensive in silico analyses and functional data were provided to advance the pathogenicity assessment of the identified variants.
Article
Genetics & Heredity
Linda M. Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R. Brian Lowry, Jennifer Black, Joseph Lee, Ann Shue, Radka Kremlikova Pourova, Manuela Vaneckova, Pavlina Skalicka, Jana Jedlickova, Marie Trkova, Bradley Williams, Gabriele Richard, Kristine Bachman, Andrea H. Seeley, Deborah Costakos, Thomas M. Glaser, Alex Levin, Petra Liskova, Jeffrey C. Murray, Elena Semina
Summary: This study investigated the genetic and phenotypic characteristics of the largest reported cohort of individuals with Axenfeld-Rieger syndrome (ARS). The findings revealed that there are distinct phenotypic differences between ARS subtypes caused by mutations in PITX2 and FOXC1 genes, including variations in ocular and systemic anomalies, age of onset of glaucoma, and associated features such as dental abnormalities and structural anomalies in the digestive system. The expanded phenotype of FOXC1-related ARS was also found to overlap with De Hauwere syndrome. These findings highlight the importance of providing families with a gene-specific diagnosis and management plan for ARS.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Stijn van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Victor Lopez Soriano, Eva D'haene, Fadi S. Shaya, Steven Agemy, Thijs van der Snickt, Alfredo Duenas Rey, Toon Rosseel, Mattias Van Heetvelde, Sarah Vergult, Irina Balikova, Arthur A. Bergen, Camiel J. F. Boon, Julie De Zaeytijd, Chris F. Inglehearn, Bohdan Kousal, Bart P. Leroy, Carlo Rivolta, Veronika Vaclavik, Jenneke van den Ende, Mary J. van Schooneveld, Jose Luis Gomez-Skarmeta, Juan J. Tena, Juan R. Martinez-Morales, Petra Liskova, Kris Vleminckx, Elfride De Baere
Summary: This study elucidates the cis-regulatory mechanisms of NCMD and supports the view that this condition is a retinal enhanceropathy.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Clinical Neurology
Axel Petzold, Clare L. Fraser, Mathias Abegg, Raed Alroughani, Daniah Alshowaeir, Regina Alvarenga, Cecile Andris, Nasrin Asgari, Yael Barnett, Roberto Battistella, Raed Behbehani, Thomas Berger, Mukharram M. Bikbov, Damien Biotti, Valerie Biousse, Antonella Boschi, Milan Brazdil, Andrei Brezhnev, Peter A. Calabresi, Monique Cordonnier, Fiona Costello, Franz M. Cruz, Leonardo Provetti Cunha, Smail Daoudi, Romain Deschamps, Jerome de Seze, Ricarda Diem, Masoud Etemadifar, Jose Flores-Rivera, Pedro Fonseca, Jette Frederiksen, Elliot Frohman, Teresa Frohman, Caroline Froment Tilikete, Kazuo Fujihara, Alberto Galvez, Riadh Gouider, Fernando Gracia, Nikolaos Grigoriadis, Jose M. Guajardo, Mario Habek, Marko Hawlina, Elena H. Martinez-Lapiscina, Juzar Hooker, Jyh Yung Hor, William Howlett, Yumin Huang-Link, Zhannat Idrissova, Zsolt Illes, Jasna Jancic, Panitha Jindahra, Dimitrios Karussis, Emilia Kerty, Ho Jin Kim, Wolf Lagreze, Letizia Leocani, Netta Levin, Petra Liskova, Yaou Liu, Youssoufa Maiga, Romain Marignier, Chris McGuigan, Dalia Meira, Harold Merle, Mario L. R. Monteiro, Anand Moodley, Frederico Moura, Silvia Munoz, Sharik Mustafa, Ichiro Nakashima, Susana Noval, Carlos Oehninger, Olufunmilola Ogun, Afekhide Omoti, Lekha Pandit, Friedemann Paul, Gema Rebolleda, Stephen Reddel, Konrad Rejdak, Robert Rejdak, Alfonso J. Rodriguez-Morales, Marie-Benedicte Rougier, Maria Jose Sa, Bernardo Sanchez-Dalmau, Deanna Saylor, Ismail Shatriah, Aksel Siva, Hadas Stiebel-Kalish, Gabriella Szatmary, Linh Ta, Silvia Tenembaum, Huy Tran, Yevgen Trufanov, Vincent van Pesch, An-Guor Wang, Mike P. Wattjes, Ernest Willoughby, Magd Zakaria, Jasmin Zvornicanin, Laura Balcer, Gordon T. Plant
Summary: There is no consensus on the classification and diagnostic criteria of optic neuritis. The development of diagnostic criteria and classification methods can lead to accurate diagnosis, guide treatment, and assess the need for long-term pharmacological management.
Article
Medicine, General & Internal
Pavlina Skalicka, Jana Jedlickova, Ales Horinek, Marie Trkova, Alice E. Davidson, Stephen J. Tuft, Lubica Dudakova, Petra Liskova
Summary: We report the phenotype of a 15-year-old female patient with anterior segment dysgenesis caused by a novel FOXC1 variant. In addition to typical ASD features, the patient also exhibited corneal flattening and iridocorneal adhesions. Further studies are needed to verify the potential association between pathogenic variants in FOXC1 and snail track lesions, as well as corneal flattening.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Jana Jedlickova, Marie Vajter, Tomas Barta, Graeme C. M. Black, Rahat Perveen, Jan Mares, Marek Fichtl, Bohdan Kousal, Lubica Dudakova, Petra Liskova
Summary: Four members of a three-generation Czech family were found to carry the n.37C>T variant in MIR204, leading to early-onset chorioretinal dystrophy. This study confirmed the existence of a distinct clinical entity caused by this genetic mutation. Chorioretinal dystrophy was found to be associated with iris coloboma, congenital glaucoma, and premature cataracts, expanding the phenotypic range. In silico analysis of the variant revealed 713 new targets. Additionally, albinism caused by biallelic pathogenic OCA2 variants was observed in four family members. Haplotype analysis ruled out relatedness with the original family reported to have the n.37C>T variant in MIR204. The identification of a second independent family further confirms the existence of a distinct MIR204-associated clinical entity and suggests a potential involvement of congenital glaucoma in the phenotype.
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)