Molecular genetics & genomic medicine · 2026
A Novel A-Kinase-Anchoring Protein 9 Variant in Premature Coronary Artery Disease: A Case Series.
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Jiao Yuemiao, Wang Minxian, Qiang Guifen, Zhao Li, Xi Ziwei, Yu Yue, Yin Chengqian, Song Guangyuan
Аннотация
BACKGROUND: Familial premature coronary artery disease (CAD) is often associated with genetic variants. This study investigated potential causal variants in a Chinese pedigree with premature CAD.
METHODS: In total, nine family members were included in the study (six CAD patients and three unaffected controls). Whole-exome sequencing (WES) was performed on six family members (including four patients and two unaffected controls), and the candidate variant was further validated by Sanger sequencing in four individuals.
RESULTS: A strong linkage between c.6406C>G (p.Gln2136Glu; NM_005751.5) in AKAP9 (A-KINASE ANCHOR PROTEIN 9; OMIM 604001) and premature CAD was detected in the pedigree. Functional analysis revealed that the c.6406C>G variant in AKAP9 decreased the interaction between AKAP9 and PRKAR2A. This association was first detected in premature CAD patients.
CONCLUSIONS: Our findings indicate that c.6406C>G in the AKAP9 gene could be a causal variant for premature CAD in the Chinese population.
METHODS: In total, nine family members were included in the study (six CAD patients and three unaffected controls). Whole-exome sequencing (WES) was performed on six family members (including four patients and two unaffected controls), and the candidate variant was further validated by Sanger sequencing in four individuals.
RESULTS: A strong linkage between c.6406C>G (p.Gln2136Glu; NM_005751.5) in AKAP9 (A-KINASE ANCHOR PROTEIN 9; OMIM 604001) and premature CAD was detected in the pedigree. Functional analysis revealed that the c.6406C>G variant in AKAP9 decreased the interaction between AKAP9 and PRKAR2A. This association was first detected in premature CAD patients.
CONCLUSIONS: Our findings indicate that c.6406C>G in the AKAP9 gene could be a causal variant for premature CAD in the Chinese population.