BUD23 and Williams Syndrome

The association between BUD23 and Williams syndrome is currently supported by limited genetic evidence and moderate functional data. Genetic studies have identified BUD23 as one of several genes present within the recurrent 7q11.23 microdeletions observed in Williams syndrome cases (PMID:12073013) (PMID:30568834). Although these multipatient studies implicate BUD23 by its consistent loss as part of the Williams-Beuren syndrome critical region, no isolated mutations, detailed segregation data, or independent case reports have been reported to affirm a gene‐specific causality. As such, BUD23’s contribution is currently attributed to the regional haploinsufficiency that underlies the complex phenotypic spectrum of Williams syndrome.

Functional assessment studies have demonstrated that BUD23 plays a key role in ribosomal subunit biogenesis through its involvement with methyltransferase activity. Experimental work, including yeast model assays and protein interaction analyses, indicates that loss of BUD23 function disrupts ribosome assembly (PMID:22956767) (PMID:24710271), thereby potentially contributing indirectly to the developmental anomalies observed in Williams syndrome. Overall, while additional evidence may exist given the multifaceted role of the deleted region, the clinical utility of assessing BUD23 status remains as one supportive element for diagnostic decision‑making in the context of Williams syndrome.

Key Take‑home sentence: BUD23 is a constituent of the Williams syndrome deletion, and while its isolated contribution is limited, functional data underscore its biological relevance, justifying its inclusion in comprehensive genomic assessments of the syndrome.

References

• Human Genetics • 2002 • Identification of additional transcripts in the Williams-Beuren syndrome critical region PMID:12073013
• Current Health Sciences Journal • 2016 • Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report PMID:30568834
• Molecular Biology of the Cell • 2012 • The methyltransferase adaptor protein Trm112 is involved in biogenesis of both ribosomal subunits PMID:22956767
• Molecular and Cellular Biology • 2014 • Physical and functional interaction between the methyltransferase Bud23 and the essential DEAH-box RNA helicase Ecm16 PMID:24710271

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