ArticleScientific reports2026
Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.
Article in Scientific reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Cardiovascular laterality defects occur with an estimated birth prevalence of 1.1/10,000 live births, associated with congenital heart defects (CHD) and situs abnormalities. Known disease genes explain about 20% of all cases often correlated with primary ciliary dyskinesia (PCD). We aimed to identify disease genes beyond PCD-related aetiologies using exome sequencing in 16 case-parent trios followed by exome survey in 2,109 individuals with situs inversus totalis, heterotaxy, or isolated CHD. We identified six different variants in FAM222B, previously discussed as a candidate gene for cerebral cavernous malformations. The variant c.899G > A (p.300Arg > His) was found de novo in two unrelated families. FAM222B has been described as a substrate of Nemo-like kinase (NLK), associated with left-right body axis determination. Structural modelling suggests a function of FAM222B Arg300 in NLK recognition. We investigated whole-mount in situ hybridization (WISH) expression pattern and genomic context of the zebrafish (zf) FAM222B homologues, fam222ba/bb, and fam222aa. Using a double-knockout (dd-KO) fam222ba/bb zf line, we identified aberrant cardiac looping in these larvae and enlarged atrium and ventricle in adult zf. We further tested the c.899G > A variant using human mRNA injections in Tg(kdrl:EGFP) wildtype (wt) reporter-zf, which led to perturbed cardiogenesis. Together, we propose FAM222B as a novel candidate gene for cardiovascular laterality defects.
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