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Anomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital Syndrome.
Pediatr Cardiol
January 2025
Department of Pediatrics, Cincinnati Children's Hospital Medical Center, The Heart Institute, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Cardiac-Urogenital Syndrome (CUGS) is a recently identified genetic disease characterized by urogenital, diaphragmatic, ophthalmic, and cardiac abnormalities caused by heterozygous pathogenic variants in the Myelin Regulatory Factor (MYRF) gene. The complete spectrum of disease characteristics and prevalence is not yet defined. This report documents the first known cases of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) in MYRF-associated Cardiac-Urogenital Syndrome (MYRF-CUGS).
View Article and Find Full Text PDFFetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Prenat Diagn
December 2024
Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.
Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.
View Article and Find Full Text PDFmutation leads to a single manifestation of sexual development and mimics partial androgen insensitivity syndrome: a case report and literature review.
Gynecol Endocrinol
March 2024
Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Objective: To highlight the challenges in diagnosing 46, XY disorder of sex development related to mutation.
Methods: We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen insensitivity syndrome (AIS).
Results: On examination, the patient's vulva was found virilized with 3cm-long clitoris.
MYRF: A unique transmembrane transcription factor- from proteolytic self-processing to its multifaceted roles in animal development.
Bioessays
April 2024
School of Life Science and Technology, ShanghaiTech University, Shanghai, China.
The Myelin Regulator Factor (MYRF) is a master regulator governing myelin formation and maintenance in the central nervous system. The conservation of MYRF across metazoans and its broad tissue expression suggest it has functions extending beyond the well-established role in myelination. Loss of MYRF results in developmental lethality in both invertebrates and vertebrates, and MYRF haploinsufficiency in humans causes MYRF-related Cardiac Urogenital Syndrome, underscoring its importance in animal development; however, these mechanisms are largely unexplored.
View Article and Find Full Text PDFCRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease.
Dis Model Mech
August 2023
Centre for Organismal Studies, Heidelberg University, 69120 Heidelberg, Germany.
High-throughput DNA sequencing studies increasingly associate DNA variants with congenital heart disease (CHD). However, functional modeling is a crucial prerequisite for translating genomic data into clinical care. We used CRISPR-Cas9-mediated targeting of 12 candidate genes in the vertebrate model medaka (Oryzias latipes), five of which displayed a novel cardiovascular phenotype spectrum in F0 (crispants): mapre2, smg7, cdc42bpab, ankrd11 and myrf, encoding a transcription factor recently linked to cardiac-urogenital syndrome.
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