AI Article Synopsis
- Chitayat syndrome is a rare genetic condition characterized by features such as bilateral hyperphalangism, bronchomalacia, and distinct facial dysmorphisms, including a large fontanelle and specific nose shape.
- Research has identified a potential genetic link, specifically the recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene, found in a few documented cases.
- This report focuses on a unique case of Chitayat syndrome and highlights the related radiological findings to enhance understanding of this uncommon syndrome.
Article Abstract
Chitayat syndrome is a rare genetic syndrome characterised by bilateral hyperphalangism, bronchomalacia, hallux valgus, and other facial dysmorphism including large anterior fontanelle, hypertelorism, and anteverted nostrils. Since the initial discovery, only few cases of Chitayat syndrome have been reported in the literature. Previous literatures showed the genetic link between 5 case reports, showing that a unique link of recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene may be the contributory genetic cause of Chitayat syndrome. However, it still remains as an unfamiliar genetic syndrome. In this case report, we aim to discuss a rare case of Chitayat syndrome and demonstrate the radiological findings associated.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352852 | PMC |
| http://dx.doi.org/10.1016/j.radcr.2019.01.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.
Eur J Hum Genet
December 2024
Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Italy.
Heterozygous deleterious null alleles and specific missense variants in the DNA-binding domain of the ETS2 repressor factor (ERF) cause craniosynostosis, while the recurrent p.(Tyr89Cys) missense variant is associated with Chitayat syndrome. Exome and whole transcriptome sequencing revealed the ERF de novo in-frame indel c.
View Article and Find Full Text PDFMGA-related syndrome: A proposed novel disorder.
HGG Adv
January 2025
GeneDx, LLC, Gaithersburg, MD, USA.
MGA (OMIM: 616061) encodes a dual-specificity transcription factor that regulates the expression of Max-network and T-box family target genes, important in embryogenesis. Previous studies have linked MGA to various phenotypes, including neurodevelopmental disorders, congenital heart disease, and early-onset Parkinson's disease. Here, we describe the clinical phenotype of individuals with de novo, heterozygous predicted loss-of-function variants in MGA, suggesting a unique disorder involving both neurodevelopmental and congenital anomalies.
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 PDFBackground: Mitral annular disjunction (MAD), posterior displacement of the mitral valve leaflet hinge point, predisposes to arrhythmias or sudden cardiac death. We evaluated the burden of MAD, mitral valve prolapse (MVP), and mitral regurgitation (MR) by heritable thoracic aortic disease gene in a cross-sectional analysis of 2014-2023 data in the Montalcino Aortic Consortium registry.
Methods And Results: MAD was determined by direct measurement of echocardiographic images.
Agenesis of Corpus Callosum, Malformations of Cortical Development, Duodenal Atresia and Fetal Growth Restriction: Prenatal Markers for Zhu-Tokita-Takenouchi-Kim Syndrome.
Prenat Diagn
October 2024
Department of Obstetrics and Gynaecology, Division of Maternal Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!