Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
The current evidence for an association between LAT2 and Williams syndrome is limited. Two independent studies have reported that patients diagnosed with Williams syndrome harbor chromosomal microdeletions encompassing LAT2 among over 30 genes, suggesting a potential contributory role for LAT2 in the complex phenotype of Williams syndrome (PMID:20592989) (PMID:30568834). However, no gene‑specific mutations or isolated variants in LAT2 have been described, and segregation data in affected families are lacking.
Genetic evidence relies solely on chromosomal microarray findings from case reports and multi‑patient studies, while functional evidence from studies in unrelated cellular systems (e.g., mast cell signaling) indicates that LAT2 plays a role in certain signaling pathways (PMID:17013982). Despite these data, the mechanistic link between LAT2 and the Williams syndrome phenotype remains unestablished. Key take‑home: Further gene‑focused studies are required to clarify LAT2’s specific contribution to the pathogenesis of Williams syndrome, though its inclusion in the deletion lends tentative diagnostic utility.
Gene–Disease AssociationLimitedEvidence is limited to two independent studies reporting deletions that include LAT2 in patients with Williams syndrome (PMID:20592989; PMID:30568834), with no gene‑specific variants or segregation data available. Genetic EvidenceLimitedGenetic support is derived solely from chromosomal microarray analyses where LAT2 is one of multiple genes deleted in Williams syndrome; no isolated recurrent variants have been reported. Functional EvidenceLimitedFunctional studies, such as those in mast cell signaling assays (PMID:17013982), suggest a role for LAT2 in cellular processes, but direct links to the Williams syndrome phenotype have not been demonstrated. |