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Review
. 2001 Jul-Aug;3(4):310-3.
doi: 10.1097/00125817-200107000-00007.

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

C E Keegan  1 , J B Mulliken, B L Wu, B R Korf
Affiliations
Free article
Review

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

C E Keegan et al. Genet Med. 2001 Jul-Aug.
Free 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.

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