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ACBD7 (HGNC:17715) has been recently implicated as a candidate gene for anorexia nervosa (MONDO_0005351) based on sequencing studies assessing multiple genes in affected cohorts. In a targeted next‑generation sequencing panel applied to 135 anorexia nervosa patients (PMID:38112957), variants in ACBD7 were identified along with several other candidate genes. Although the overall study design supports the role of rare variants in the susceptibility to anorexia nervosa, detailed familial segregation data for ACBD7 is not provided.
The genetic evidence for ACBD7 is derived from both case‐report and multi‑patient studies. Specifically, candidate variants were observed in ACBD7 and curated in a study enrolling 135 patients, supporting its potential involvement in the disorder. One representative variant reported is c.350G>C (p.Arg117Pro) which meets criteria for a complete coding change and adheres to HGVS guidelines. However, the lack of detailed segregation—such as additional affected relatives carrying this variant—limits the strength of the evidence.
In terms of inheritance, while anorexia nervosa is recognized as a complex condition with multifactorial contributions, the identified variant in ACBD7 appears in a heterozygous state, suggesting an autosomal dominant‐like contribution in this context. It is important to note that the observed pattern may reflect a candidate gene effect rather than a classic Mendelian transmission pattern.
Functional assessment studies remain sparse with regard to ACBD7. Although evidence from functional assays was alluded to in the overall study design, no specific functional experiments, such as expression studies or rescue assays, have been detailed for ACBD7. Therefore, the experimental evidence supporting a role for ACBD7 in anorexia nervosa is currently limited.
Overall, the integration of the available genetic data indicates that ACBD7 holds a limited association with anorexia nervosa. The identification of candidate variants within a sizable cohort establishes preliminary support; however, the absence of robust segregation data and conclusive functional validation tempers the strength of the association. Further investigations, ideally including functional studies and independent replication, are necessary to fully delineate ACBD7’s role in the pathogenesis of anorexia nervosa.
Key take‑home: While ACBD7 emerges as a promising candidate gene for anorexia nervosa, its clinical utility will depend on further corroborative genetic and experimental evidence.
Gene–Disease AssociationLimitedACBD7 has been identified as a candidate gene in a sequencing panel of 135 anorexia nervosa patients (PMID:38112957); however, the evidence is limited by the absence of detailed segregation and extensive replication. Genetic EvidenceLimitedA representative variant, c.350G>C (p.Arg117Pro), was reported in ACBD7 in a multi‑patient study, yet the lack of additional familial segregation data constrains the genetic evidence. Functional EvidenceLimitedNo conclusive functional assays or experimental studies have been provided to elucidate the mechanistic role of ACBD7 in anorexia nervosa. |