TSR2 – Diamond-Blackfan Anemia

In a cohort of six unrelated probands with combined mandibulofacial dysostosis and macrocytic anemia diagnostic of Diamond-Blackfan anemia, exome sequencing identified a hemizygous missense variant c.191A>G (p.Glu64Gly) in TSR2 in one male proband, implicating TSR2 as a novel X-linked contributor to DBA (PMID:24942156). No additional affected relatives were reported to segregate this allele.

Functional assays specific to TSR2 have not yet been reported, and evidence for a direct mechanistic link to ribosome biogenesis in erythroid progenitors remains inferential. Given the singular case report and absence of segregation or functional validation, current evidence supports a limited association of TSR2 with Diamond-Blackfan anemia.

References

• American journal of medical genetics. Part A • 2014 • Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. PMID:24942156

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