To date, the role of NODAL in normal and abnormal L-R asymmetry has been well established. In a recent paper, mutations of this gene have been reported in heterotaxy but also in transposition with D- or L-ventricular loop. The effects of NODAL and other laterality genes can be recognized separately in all three cardiac segments: for topology and septation of the atria, for ventricular looping, and for spiralization and alignment of the great arteries.
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http://dx.doi.org/10.1186/s13073-024-01375-8 | DOI Listing |
Am J Hum Genet
December 2024
Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A(∗)STAR, Singapore, Singapore; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia; Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address:
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
View Article and Find Full Text PDFClin Genet
February 2025
Center for Genomic Medicine, Riyadh, Saudi Arabia.
Heterotaxy (HTX) is a group of clinical conditions with a shared pathology of dislocation of one or more organs along the left-right axis. The etiology of HTX is tremendously heterogeneous spanning environmental factors, chromosomal aberrations, mono/oligogenic variants, and complex inheritance. However, in the vast majority of cases, the etiology of HTX remains elusive.
View Article and Find Full Text PDFCureus
October 2024
Anesthesiology, Dr. D.Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Coarctation of the aorta (CoA) accounts for a small percentage of all congenital heart diseases (CHD) and occurs with a rare incidence in live births. It is a frequently diagnosed cardiac defect in infancy, though some patients present later with severe complications and reduced life expectancy. Heterotaxy syndrome is marked by abnormal lateralization of abdominal and thoracic organs, including the cardiac atria.
View Article and Find Full Text PDFPediatr Pulmonol
October 2024
Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Primary ciliary dyskinesia (PCD) is a rare, inherited disease characterized by impaired motile ciliary function leading to chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and subfertility. Over fifty PCD-associated genes have also been identified, which have provided new insights into the processes involved into ciliary assembly, structure, and function. Historically, the diagnosis of PCD was based on the presence of ultrastructural defects in the ciliary axoneme but with identification of a growing number of disease-associated genes, genetic testing has become a first-line diagnostic tool.
View Article and Find Full Text PDFBiochim Biophys Acta Mol Basis Dis
January 2025
Department of Developmental Biology, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan. Electronic address:
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