Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27

Limb mammary syndrome (LMS), mapped to human chromosome 3q27, is a newly described genetic disorder involving ectrodactyly, mammary hypoplasia, and other hand/foot anomalies. It overlaps with the ulnar mammary syndrome (UMS) and a clefting syndrome, but allelism with these has been excluded. A large Dutch family with the syndrome has been studied. No mutations were found in the SOX2 (ital) open reading frame, but the SOX2 (ital) gene at 3q27 seems like an excellent candidate: the corresponding protein simulates FGF4 (ital) expression and the protein is one that is important for signaling in limb development/outgrowth. .