Prenatal Diagnosis of a Splice-Site Variant in UBA2: Expanding the Clinical Spectrum of UBA2-Related Disease.

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.