DAGLB – Autism

Evidence linking DAGLB (HGNC:28923) to autism (MONDO_0005260) is currently limited. A 29‑month‑old male patient with autism was found to carry a 7p22.1 interstitial duplication encompassing 14 OMIM‐annotated genes, including DAGLB, with clinical features such as cryptorchidism (HP:0000028), delayed speech and language development (HP:0000750), reduced eye contact (HP:0000817), brachycephaly (HP:0000248), and protruding ear (HP:0000411) (PMID:25893121). While more than 60 cases of 7p22 duplications have been reported—with at least 16 observed in isolation—the duplication’s broad genomic scope precludes definitive attribution of the autism phenotype to DAGLB alone.

Functional assessments provide additional, though indirect, evidence. A genome‐wide association study identified a regulatory variant that influences DAGLB expression, reporting an allele (converted for reporting as c.6435220G>C (p.Gly2148Ala)) associated with significant expression variance in subcutaneous adipose tissue and increased transcriptional activity (PMID:29476167). However, the mechanistic link between these regulatory changes and autism pathogenesis remains speculative. Key take‑home message: while preliminary data suggest that DAGLB dysregulation may contribute to the autism spectrum, further gene‐focused investigations and segregation studies are essential to establish its clinical utility.

References

• Case reports in genetics • 2015 • Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism PMID:25893121
• European journal of human genetics : EJHG • 2018 • A novel variant associated with HDL-C levels by modifying DAGLB expression levels: An annotation-based genome-wide association study PMID:29476167

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