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

Academic Article

Abstract

  • Purpose: It can be difficult to differentiate clinically between hemifacial microsomia (HFM) and Townes-Brocks syndrome (TBS). The distinction is important because TBS is inherited as an autosomal dominant trait, whereas HFM is sporadic. Methods: We performed a retrospective analysis of eight patients 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 patients revealed one with a C → T transition (resulting in a nonsense mutation R276X) at a previously identified mutational "hot spot." Conclusion: Patients with overlapping features of both syndromes should be screened for SALL1 mutations.
  • Published In

    Digital Object Identifier (doi)

    Author List

  • Keegan CE; Mulliken JB; Wu BL; Korf BR
  • Start Page

  • 310
  • End Page

  • 313
  • Volume

  • 3
  • Issue

  • 4