XPOT – 12q14 Microdeletion Syndrome

The 12q14 microdeletion syndrome presents with a constellation of clinical features including severe short stature, failure to thrive, osteopoikilosis, and global developmental delay (PMID:28407409). In the reported family, three probands – a mother and her two sons – were found to carry a 1.9 Mb heterozygous deletion encompassing 14 genes, with XPOT being one of the suggested candidate genes. Although the deletion involves multiple genes, the genetic evidence specifically supporting XPOT is limited, as no single‐nucleotide or discrete coding variants in XPOT were isolated. The familial segregation observed (with two additional affected relatives) provides a preliminary link, but the multifaceted gene content of the deletion prevents definitive assignment of causality to XPOT alone (PMID:28407409).

No direct functional assessments specific to XPOT were presented in the available studies. While the deletion’s broad impact hints at possible haploinsufficiency, experimental evidence such as in vitro functional assays, animal models, or rescue experiments targeting XPOT is lacking. Overall, the synthesis of the available genetic and functional data results in a limited level of evidence supporting the association between XPOT and 12q14 microdeletion syndrome. Key to clinical decision‑making is the recognition that deletions encompassing XPOT, in the context of other candidate genes, warrant consideration during differential diagnosis and genetic counseling (PMID:28407409).

References

• American journal of medical genetics. Part A • 2017 • Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature PMID:28407409

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