PURPOSE JKAMP encodes a transmembrane protein involved in the ER-associated degradation (ERAD) pathway, a cellular mechanism essential for protein quality control. Variants in ERAD-related genes have been linked to rare neurodevelopmental disorders. This study aims to show that biallelic JKAMP variants cause an autosomal recessive ERAD pathway neurodevelopmental disorder, and to characterize the clinical and genetic features of the condition. METHODS We conducted comprehensive genomic and clinical investigations of ten individuals (ages 1-25) from six unrelated families affected by a syndromic neurodevelopmental disorder. RESULTS In this study we identify three biallelic deleterious JKAMP variants including a founder splicing variant in four unrelated families originating from the same region in Palestine. The cardinal clinical features of JKAMP-related disorder involve moderate/severe global developmental delay, intellectual disability, hypotonia, seizures, and urogenital manifestations. Additional features include microcephaly and dystonia. The disorder shows a progressive course, characterized by coarsening of facial features, gait abnormalities, and cerebral atrophy. The clinical phenotype closely parallels disorders linked to other ERAD pathway components, suggesting a shared pathogenic mechanism. CONCLUSION Our data define biallelic JKAMP variants as a new cause of ERAD pathway-associated neurodevelopmental disorder and expand the genotypic and phenotypic spectrum of this group of conditions.
PURPOSE To test whether brief, community co-designed genomic education increases genomic knowledge, genomic self-efficacy, and interest in participating in genomic research. METHODS Randomized 2×2 factorial design crossed content (study-tailored vs. general genomics) and format (≤2.5-minute video vs. infographic) among North Carolina adults (N=386). Outcomes were post-education genomic knowledge, genomic self-efficacy, and participation interest (self, child). Bootstrapped linear models adjusted for pretest scores and tested interactions. Follow-up interviews (n=21) used rapid qualitative analysis informed by implementation science frameworks. RESULTS Following brief genomic education, knowledge (p = .0007) and self-efficacy (p < .0001) increased. Personal participation interest was unchanged (p = .94) and interest in their child's participation increased (p = .0004). Effects were small, consistent with a brief intervention. Only the study-tailored video produced increases in interest for self and child among participants with lower baseline interest. Interviews emphasized clarity, prevention framing, and privacy concerns as key influences on understanding and interest. CONCLUSION This pilot provides evidence that community co-designed, bilingual genomic education can increase genomic knowledge and self-efficacy and may modestly increase interest in child participation, particularly among those with lower initial interest. Findings support education to strengthen informed engagement and promote inclusive participation in genomic research and care.
