Journal
GENETICS IN MEDICINE
Volume 3, Issue 4, Pages 310-313Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00125817-200107000-00007
Keywords
Townes-Brocks syndrome; hemifacial microsomia; phenotype; retrospective analysis; SALL1
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Funding
- NICHD NIH HHS [P30HD18655] Funding Source: Medline
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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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