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Genet Med. 2001 Jul-Aug;3(4):310-3.

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.

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  • 1Department of Pediatrics, University of Michigan Medical School, Ann Arbor, USA.

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.

PMID:
11478532
[PubMed - indexed for MEDLINE]
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