The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome

Mutations affecting the DNA-binding region of the T-box gene TBX3 have been associated with ulnar-mammary syndrome (UMS). In a study of 75 individuals with UMS from 10 families, the TBX3 mutations have been characterized, and half of the mutations are found downstream of the area where the T-box domain is encoded. No apparent phenotypic differences were observed between missense mutations and deletion or frameshifts.