Missense variants in ankrd11 cause kbg syndrome by impairment of stability or transcriptional activity of the encoded protein

HIGHLIGHTS

• who: Elke de Boer from the (UNIVERSITY) have published the paper: Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein, in the Journal: (JOURNAL) of 27/01/2022
• what: The authors show that almost all individuals carrying rare heterozygous predicted damaging ANKRD11 missense variants fit well within the clinical spectrum described for KBG syndrome.

SUMMARY

Consistent with haploinsufficiency is the finding that ANKRD11 mutated with p.(Lys1347del) or p.(Leu2143Val) shows reduced transcriptional activity on the p21 promotor in cell-based systems . . .

 



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