ArticleHuman molecular genetics2026
Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.
Article in Human molecular genetics, 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
Craniofacial microsomia (CFM) encompasses a phenotypic continuum of congenital anomalies ranging from isolated microtia to more complex manifestations within the oculo-auriculo-vertebral spectrum, including Goldenhar syndrome, reflecting abnormal development of first and second pharyngeal arch-derived structures. While several genetic susceptibility loci have been reported, population-based evidence in individuals of European ancestry remains limited. Using nationwide data from FinnGen in the Finnish founder population, we identified a genome-wide significant association at a conserved intergenic locus near ROBO1, extending previous findings to a European ancestry cohort. The lead variant, rs62256696, lies within a regulatory region active in human embryonic craniofacial tissues during early development and shows concordant association with previously reported ROBO1 signals from non-European populations. Genetic correlation analyses demonstrated strong shared genetic architecture between CFM and auditory developmental phenotypes, consistent with the defined phenotypic continuum. Together, these findings extend previous observations to a new population context and support a role for regulatory variation at the ROBO1 locus in early craniofacial morphogenesis and auditory system development underlying craniofacial and auditory malformations.
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