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Results for “left-right axis”

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PubMed2026

Emerging genes implicated in human congenital heart disease: a 2023-2025 scoping review.

BACKGROUND: Congenital heart disease (CHD) is the most common major congenital anomaly and a leading cause of infant morbidity and mortality. The rapid expansion of genomic technologies has accelerated the discovery of rare genetic variants implicated in CHD pathogenesis. However, most individuals with CHD still lack an identifiable molecular etiology. The purpose of this scoping review is to systematically characterize genes reported in the recent literature as candidate CHD-associated genes and contextualize these findings within the stages of cardiac morphogenesis. METHODS: PubMed was searched using predefined terms related to CHD and genetic variants, supplemented by a prospectively maintained internal database. We included human studies published between January 2023 and December 2025 that identified pathogenic, likely pathogenic, or uncertain monogenic variants in at least one patient with CHD. Animal-only studies, chromosomal abnormalities, copy number variants, multigenic associations, transcriptomic/proteomic analyses, reviews, and maternal-only genetic studies were excluded. Gene-disease validity classifications were assigned using the Clinical Genome Resource (ClinGen) CHD Gene Curation Expert Panel framework. RESULTS: Of 2,834 screened articles, 391 studies met inclusion criteria, identifying 912 unique genes reported as candidate CHD-associated genes. Frequently reported genes included PTPN11, NOTCH1, GATA4, JAG1, MYH6, GATA6, and LZTR1. Identified genes spanned all major stages of cardiogenesis, including developmental priming, cardiac progenitor specification, left-right axis formation, neural crest migration, outflow tract development, septation, and postnatal structural remodeling. Studies increasingly implicated ciliary dysfunction, transcriptional regulation, ribosomal biology, and multigenic inheritance in CHD pathogenesis. Emerging methodologies included stem cell-derived cardiac models, machine learning-based gene prioritization, and epigenetic analyses. CONCLUSIONS: Recent literature substantially expands the catalog of candidate genes that may be associated with CHD and highlights the biologic complexity underlying cardiac morphogenesis. Integration of genomic, developmental, and functional approaches will be essential to improve mechanistic understanding, refine genetic counseling, and support future precision medicine strategies for CHD.

Cardiac development↗

PubMed2025

The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation of Arl13b splicing.

Cilia function in the left-right organizer (LRO) is critical for determining internal organ asymmetry in vertebrates. To further understand the genetics of left-right asymmetry, we isolated a mouse mutant with laterality defects, l11Jus27, from a random mutagenesis screen. l11Jus27 mutants carry a missense mutation in the pre-mRNA processing factor, Prpf8. cephalophŏnus (cph) mutant zebrafish, carrying a protein truncating mutation in prpf8, phenocopy the laterality defects of l11Jus27 mutants. Prpf8 mutant mouse and fish embryos have increased expression of an alternative transcript encoding the cilium-associated protein, ARL13B, that lacks exon 9. In zebrafish, over-expression of the arl13b transcript lacking exon 9 perturbed cilium formation and caused laterality defects. The shorter ARL13B protein isoform lacked interactions with intraflagellar transport proteins. Our data suggest that PRPF8 plays a prominent role in LRO cilia by through the regulation of alternative splicing of ARL13B, thus uncovering a new mechanism for cilia-linked developmental defects.

ARL13B↗

PubMed1976

Variations in the relationship between the diaphysis and the epiphyses of the tibia.

In all 56 tibiae from Lapps and 56 tibiae from Norwegians have been studied. These ethnic groups represent different weight bearing situations. Variables expressing adaptation to non-axial loading are dealt with. The bone is mainly studied in the AP and the ML planes, as well as in the three dimensional space. The material is analyzed statistically. The distribution form is examined and the deviations from normality are found to be moderate. Mainly positive skewness occurs. Platykurtosis is found as often as leptokurtosis. The deviations from a standard normal distribution are not supposed to affect the results significantly. There is a non-systematic pattern of distribution. The variability is generally lower in Lapps than in Norwegians. The standard deviation shows highest numerical values in indices, lowest in linear variables. Systematic group differences, especially in similar variables, are supposed to be of greater importance than isolated differences. The variables giving deviations from the reference planes or the diaphyseal axis, show the largest and the consistent left-right differences. In linear variables Lapps and females show lower mean values than males and Norwegians, respecitvely. In linear variables giving deviations from the reference planes, in angular variables and in indices, Lapps usually show the highest mean values. Lapps tend to show larger sex differences in variables giving deviations from the reference planes or the diaphyseal axis. However, the sex differences within the Lapps are small. The variations of the tibia are supposed to be the results of mechanical factors in bone remodelling. The epiphyseal-metaphyseal parts tend to have a constant shape, the adaptations to non-axial loading predominantly appearing in the diaphysis. The relation between the weight bearing line and the diaphyseal axis is discussed, particularly regarding the ML stability mechanism of the knee joint. The occurrence of torsion and its influence upon the AP and ML projected values regarding the relationship between the epiphyses and the diaphysis are discussed.

Biometry↗