Article
Medicine, General & Internal
Hsin-Lin Chen, Pei-Hsuan Lin, Yu-Ting Chiang, Wen-Jie Huang, Chi-Fang Lin, Gwo-Chin Ma, Shun-Ping Chang, Jun-Yang Fan, Shin-Yu Lin, Chen-Chi Wu, Ming Chen
Summary: Advances in genomic medicine have revolutionized the diagnostics and counseling for hereditary hearing impairment (HHI), including preimplantation genetic diagnosis (PGD). PGD has been successfully applied to different inheritance modes and phenotypes of HHI, providing parents-to-be with better reproductive choices.
Review
Genetics & Heredity
Shaza D. Malik, Mashael Al-Shafai, Atiyeh M. Abdallah
Summary: Genetic counseling services have recently been introduced in Arab countries and their utilization is increasing. Prenatal genetic counseling is crucial in the Arab context due to high rates of consanguinity. However, there is limited knowledge about the decision-making processes and factors influencing parents accessing these services in Arab countries.
Article
Obstetrics & Gynecology
Alicia A. Christensen, Pamela B. Parker, Alyssa R. Hersh, Aaron B. Caughey, Sacha A. Krieg
Summary: This study investigated the cost-effectiveness of in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disease in heterozygous individuals with Huntington disease. The results showed that IVF with preimplantation genetic testing is a cost-effective strategy compared to unassisted conception with prenatal diagnosis.
FERTILITY AND STERILITY
(2022)
Article
Medicine, General & Internal
Naixin Xu, Weihui Shi, Xianling Cao, Xuanyou Zhou, Hefeng Huang, Songchang Chen, Chenming Xu
Summary: Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the MAGEL2 gene. This study included eleven patients from three families and analyzed their clinical features. Whole-exome sequencing was used for molecular diagnosis, which was validated using Sanger sequencing. Prenatal diagnosis showed that the fetuses in all cases were free of pathogenic variants. A review of SYS cases and genotype-phenotype correlation analysis were also conducted.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Genetics & Heredity
Brynn Levy, Eva R. Hoffmann, Rajiv C. McCoy, Francesca R. Grati
Summary: The clinical effects of chromosomal mosaicism are directly linked to the type of imbalance, timing of initial event, distribution of abnormal cells, and ratio of normal/abnormal cells. Genetic counseling is crucial in educating patients about the risks of having a liveborn with a chromosome abnormality.
PRENATAL DIAGNOSIS
(2021)
Article
Genetics & Heredity
Julie Steffann, Sophie Monnot, Maryse Magen, Zahra Assouline, Nadine Gigarel, Yves Ville, Laurent Salomon, Bettina Bessiere, Jelena Martinovic, Agnes Rotig, Joana Bengoa, Roxana Borghese, Arnold Munnich, Giulia Barcia, Jean-Paul Bonnefont
Summary: This study retrospectively reviewed 20 years of prenatal diagnosis of pathogenic mtDNA variants in 80 pregnant women and 120 fetuses. The results showed that patients with undetectable pathogenic variants consistently had fetuses free of variants, while heteroplasmic women were very likely to transmit their variant.
GENETICS IN MEDICINE
(2021)
Review
Obstetrics & Gynecology
Elias M. Dahdouh
Summary: Preimplantation genetic testing for aneuploidy is an invasive technique used in IVF cycles to select euploid embryos for transfer after biopsy and cytogenetic analysis. The technique does not improve ongoing pregnancy rates per cycle in the general IVF population, but is beneficial for a selected category of patients with normal ovarian reserve and should be performed by experienced IVF clinics. If no euploid embryo is available after testing, a low-level mosaic embryo can be considered for transfer with appropriate genetic counseling.
OBSTETRICS AND GYNECOLOGY
(2021)
Review
Genetics & Heredity
Lucia Lombardi, Carmen Trumello, Liborio Stuppia, Ivana Antonucci, Tania Brandao, Alessandra Babore
Summary: This study used a comprehensive literature search to investigate the reproductive decisions of carriers with a BRCA1/2 pathogenetic variant and examine the factors associated with the choice of PGD and PND. The results identified three important themes: changes in family planning, factors associated with family plans, and acceptance or regret of PGD and PND. The findings contribute to the understanding of the experiences of individuals with a BRCA1/2 mutation and reproductive desires, providing guidance to genetic counselors and healthcare professionals in addressing reproductive issues.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Medicine, General & Internal
Kuntharee Traisrisilp, Suchaya Luewan, Sirinart Sirilert, Phudit Jatavan, Theera Tongsong
Summary: Popliteal pterygium syndrome (PPS) is an extremely rare autosomal dominant disorder characterized by cleft palate with or without cleft lip, limb abnormalities, and other distinctive features. Prenatal diagnosis of PPS is extremely rare, but can be confirmed through ultrasound and genetic testing.
Article
Obstetrics & Gynecology
Moti Gulersen, Stephanie Baum, Eran Bornstein, David Krantz, Tomer Singer, Michael Y. Divon
Summary: The implementation of PGT-A in IVF patients did not reduce the number of invasive diagnostic tests performed at our institution.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2021)
Article
Urology & Nephrology
Jessica L. Chaperon, Nina M. Wemmer, Trudy A. McKanna, Dinah M. Clark, Maggie A. Westemeyer, Philippe Gauthier, Yan Bai, Jessica M. Coleman
Summary: The study shows that the pursuit of PGT-M by couples at risk of passing on conditions with a kidney component is common and has significantly increased since 2010. The number of PGT-M tests performed for conditions involving kidney disease has increased from 5 cases in 2010 to 47 cases in the 2020 study period.
AMERICAN JOURNAL OF NEPHROLOGY
(2021)
Article
Medicine, Research & Experimental
Guanling Yu, Shuiying Ma, Hui Liu, Yujin Liu, Haozhen Zhang, Wenjia Zhang, Keliang Wu
Summary: This study analyzed the clinical outcomes of blastocyst after preimplantation genetic testing (PGT) transplantation from frozen-thawed D5 and D6. It also investigated the impact of blastocyst grade on clinical and neonatal outcomes.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Article
Genetics & Heredity
Ferdinando Barretta, Fabiana Uomo, Filomena Caldora, Rossella Mocerino, Daniela Adamo, Francesco Testa, Francesca Simonelli, Olga Scudiero, Nadia Tinto, Giulia Frisso, Cristina Mazzaccara
Summary: This study presents a custom MITO-NUCLEAR assay that enables simultaneous identification of genetic variants in both mtDNA and nuclear genes, providing a potential one-step investigation for the genetic diagnosis of mitochondrial diseases.
Article
Biochemistry & Molecular Biology
Camila Bruna de Lima, Helene Martin, Marcella Pecora Milazzotto, Marc-Andre Sirard
Summary: This study characterized the methylation profile of mtDNA during early bovine embryo development and found variations in methylation levels at different stages. Higher methylation levels were observed at the 4-cell and 16-cell stages, as well as in specific gene regions (ND6, CYTB, and tRNA-Phe). There was also an inverse correlation between methylation levels and the quantity of transcripts for these regions, suggesting a regulatory role of methylation in mtDNA transcription during embryonic development.
Article
Obstetrics & Gynecology
Moti Gulersen, Alexandra Peyser, Jiyoung Kim, Amanda Ferraro, Randi Goldman, Christine Mullin, Xueying Li, David Krantz, Eran Bornstein, Burton Rochelson
Summary: The study suggests that preimplantation genetic testing for aneuploidy (PGT-A) does not reduce the risk of abnormal prenatal screening results in singleton pregnancies conceived through in vitro fertilization. Rates of screening and diagnostic testing were similar between pregnancies conceived with PGT-A and those conceived without testing.
JOURNAL OF PERINATAL MEDICINE
(2022)
Article
Gastroenterology & Hepatology
Rana Yadak, Max V. Boot, Niek P. van Til, Dominique Cazals-Hatem, Armin Finkenstedt, Elly Bogaerts, Irenaeus F. de Coo, Marianna Bugiani
BMC GASTROENTEROLOGY
(2018)
Article
Genetics & Heredity
Laura V. Vandervore, Rachel Schot, A. Jeannette M. Hoogeboom, Carsten Lincke, Irenaeus F. de Coo, Maarten H. Lequin, Marjolein Dremmen, Leontine M. A. van Unen, Jasper J. Saris, Anna C. Jansen, Marjon A. van Slegtenhorst, Martina Wilke, Grazia M. S. Mancini
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2018)
Article
Genetics & Heredity
Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Woedl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F. J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W. Y. Chu, Brain H. Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R. Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hulya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W. Laulund, Damien Lederer, Melissa Lees, Vanesa Lopez-Gonzalez, Saskia Maas, Grazia M. S. Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N. M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Monica Rosello, Claudia A. L. Ruivenkamp, Mahmut S. Sagiroglu, Suzanne C. E. H. Sallevelt, Amparo Sanchis Calvo, Pelin O. Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P. A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyup Uctepe, G. Eda Utine, Hermine E. Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T. Vulto-van Silfhout, Patricia Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B. A. de Vries, Jill Clayton-Smith, Gijs W. E. Santen
GENETICS IN MEDICINE
(2019)
Article
Genetics & Heredity
Leroy ten Dam, Wendy S. Frankhuizen, Wim H. J. P. Linssen, Chiara S. Straathof, Erik H. Niks, Karin Faber, Annemarie Fock, Jan B. Kuks, Esther Brusse, Rene de Coo, Nicol Voermans, Aad Verrips, Jessica E. Hoogendijk, Ludo van Der Pol, Dineke Westra, Marianne de Visser, Anneke J. van der Kooi, Ieke Ginjaar
Article
Clinical Neurology
Hannah Hayhurst, Irenaeus F. M. de Coo, Dorota Piekutowska-Abramczuk, Charlotte L. Alston, Sunil Sharma, Kyle Thompson, Rocio Rius, Langping He, Sila Hopton, Rafal Ploski, Elzbieta Ciara, Nicole J. Lake, Alison G. Compton, Martin B. Delatycki, Aad Verrips, Penelope E. Bonnen, Simon A. Jones, Andrew A. Morris, David Shakespeare, John Christodoulou, Dorota Wesol-Kucharska, Dariusz Rokicki, Hubert J. M. Smeets, Ewa Pronicka, David R. Thorburn, Grainne S. Gorman, Robert McFarland, Robert W. Taylor, Yi Shiau Ng
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2019)
Article
Endocrinology & Metabolism
Stefan Groeneweg, Robin P. Peeters, Carla Moran, Mb Athanasia Stoupa, Francoise Auriol, Davide Tonduti, Alice Dica, Laura Paone, Klara Rozenkova, Jana Malikova, Adri van der Walt, Irenaeus F. M. de Coo, Anne McGowan, Greta Lyons, Rgn Feke K. Aarsen, PhD Diana Barca, Ingrid M. van Beynu, Marieke M. van der Knoop, Jurgen Jansen, Martien Manshande, Roelineke J. Lunsing, Stan Nowak, Corstiaan A. den Uil, M. Carola Zillikens, Frank E. Visser, Paul Vrijoeth, Marie Claire Y. de Wit, Nicole Wolf, Angelique Zandstra, Gauta Abegaonkar, Yogen Singh, Yolanda B. de Rijke, Marco Medici, Enrico S. Bertini, Sylvia Depoorter, Jan Lebl, Marco Cappa, Linda De Meirleir, Heiko Krude, Dana Craiu, Federica Zibordi, Isabelle Oliver Petit, Michel Polak, Krishna Chatterjee, Theo J. Visser, W. Edward Visser
LANCET DIABETES & ENDOCRINOLOGY
(2019)
Article
Clinical Neurology
R. Brandsma, C. C. Verschuuren-Bemelmans, D. Amrom, N. Barisic, P. Baxter, E. Bertini, L. Blumkin, V Brankovic-Sreckovic, O. F. Brouwer, K. Buerk, C. E. Catsman-Berrevoets, D. Craiu, I. F. M. de Coo, J. Gburek, C. Kennedy, T. J. de Koning, H. P. H. Kremer, R. Kumar, A. Macaya, A. Micalizzi, M. Mirabelli-Badenier, A. Nemeth, S. Nuovo, B. Poll-The, T. Lerman-Sagie, M. Steinlin, M. Synofzik, M. A. J. Tijssen, G. Vasco, M. A. A. P. Willemsen, G. Zanni, E. M. Valente, E. Boltshauser, D. A. Sival
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2019)
Article
Clinical Neurology
Debby M. E. I. Hellebrekers, Emma L. Blakely, Alexandra T. M. Hendrickx, Steven A. Hardy, Sila Hopton, Gavin Falkous, Irenaeus F. M. de Coo, Hubert J. M. Smeets, Nadine M. E. van der Beek, Robert W. Taylor
NEUROMUSCULAR DISORDERS
(2019)
Article
Endocrinology & Metabolism
Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Eylert Brodtkorb, Elsebet Ostergaard, I. F. M. de Coo, Leticia Pias-Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff
JOURNAL OF INHERITED METABOLIC DISEASE
(2020)
Article
Cell & Tissue Engineering
Florence van Tienen, Ruby Zelissen, Erika Timmer, Marike van Gisbergen, Patrick Lindsey, Mattia Quattrocelli, Maurilio Sampaolesi, Elvira Mulder-den Hartog, Irenaeus de Coo, Hubert Smeets
STEM CELL RESEARCH & THERAPY
(2019)
Article
Genetics & Heredity
Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Brigitte Faas, Thatjana Gardeitchik, Suzanne C. E. H. Sallevelt, Aimee Paulussen, Servi J. C. Stevens, Esther Sikkel, Mariet W. Elting, Merel C. van Maarle, Karin E. M. Diderich, Nicole Corsten-Janssen, Klaske D. Lichtenbelt, Guus Lachmeijer, Lisenka E. L. M. Vissers, Helger G. Yntema, Marcel Nelen, Ilse Feenstra, Wendy A. G. van Zelst-Stams
PRENATAL DIAGNOSIS
(2020)
Article
Clinical Neurology
Kristin N. Varhaug, Gonzalo S. Nido, Irenaeus de Coo, Pirjo Isohanni, Anu Suomalainen, Charalampos Tzoulis, Per Knappskog, Laurence A. Bindoff
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2020)
Review
Genetics & Heredity
Irenaeus F. M. de Coo, Sarah Jesse, Thuy-Linh Le, Carlo Sala
Summary: Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome characterized by developmental disturbances, neurological and psychiatric features, and sometimes comorbidities such as seizures. Different types of seizures can occur in PMS and the use of EEG and MRI is important for diagnosis and determining the need for anticonvulsant therapy. This study focused on the prevalence and semiology of epileptic seizures associated with the SHANK3 gene or 22q13 deletion involving SHANK3 in PMS, in order to provide recommendations for diagnosis and therapy as part of European consensus guidelines.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Clinical Neurology
Roy A. M. Haast, Irenaeus F. M. De Coo, Dimo Ivanov, Ali R. Khan, Jacobus F. A. Jansen, Hubert J. M. Smeets, Kamil Uludag
Summary: In this study, the researchers used high-resolution MRI data to identify neurodegenerative and functional changes in the cerebellum of m.3243A > G patients. The results showed altered tissue integrity and reduced functional connectivity in specific regions of the cerebellar cortex. This study provides valuable insights into the neuropathological changes associated with the m.3243A > G mutation.
BRAIN COMMUNICATIONS
(2022)
Article
Clinical Neurology
Dineke Westra, Meyke Schouten, Bas C. Stunnenberg, Benno Kusters, Christiaan G. J. Saris, Corrie E. Erasmus, Baziel G. van Engelen, Saskia Bulk, Corien C. Verschuuren-Bemelmans, E. H. Gerkes, Christa de Geus, P. A. van Der Zwaag, Sophelia Chan, Brian Chung, Daniela Q. C. M. Barge-Schaapveld, Marjolein Kriek, Yves Sznajer, Karin Van Spaendonck-Zwarts, Anneke J. van Der Kooi, Amanda Krause, Bitten Schonewolf-Greulich, Christine De Die-Smulders, Suzanne C. E. H. Sallevelt, Ingrid P. C. Krapels, Magnhild Rasmussen, Isabelle Maystadt, Anneke J. A. Kievit, Nanna Witting, Maartje Pennings, Rowdy Meijer, Christian Gillissen, Erik-Jan Kamsteeg, Nicol C. Voermans
JOURNAL OF NEUROMUSCULAR DISEASES
(2019)