Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: Review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene

Purpose: It can be difficult to differentiate clinically between hemifacial microsomia (HFM) and Townes-Brocks syndrome (TBS). The distinction is impo rtant because TBS is inherited as an autosomal dominant trait, whereas HFM is sporadic. Methods: We performed a retrospective analysis of eight patien ts with HFM-expanded spectrum and anal anomalies to determine whether this subset has TBS. Results: Two patients had major phenotypic findings of TBS. Sequencing of SALL1, the gene mutated in TBS, in four of the eight patient s revealed one with a C --> T transition (resulting in a nonsense mutation R276X) at a previously identified mutational "hot spot." Conclusion: Patien ts with overlapping features of both syndromes should be screened for SALL1 mutations.