Am J Med Genet A. 2026 Aug 5. doi: 10.1002/ajmg.a.70271. Online ahead of print.
ABSTRACT
We report a case of a paternally inherited novel splice site variant in a patient prenatally diagnosed with Aplasia Cutis Congenita and Ectrodactyly (ACCES) syndrome with isolated split hand and foot malformations confirmed at birth. Intrafamilial variability has been previously reported in UBA2-related syndromes and malformations. We suggest that the rising number of reported UBA2 variants associated with isolated split hand/ft malformations without a full ACCES phenotype highlights the functional importance of UBA2 in distal limb morphogenesis.
PMID:42557106 | DOI:10.1002/ajmg.a.70271