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Candidate locus analysis for PHACE syndrome.

Sheri Mitchell¹, Dawn H Siegel, Joseph T C Shieh

¹ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA.

American Journal of Medical Genetics. Part A

|May 1, 2012

Summary

This summary is machine-generated.

PHACE syndrome, a neurocutaneous disorder, was investigated for genetic causes. Researchers found deletions in the 7q33 region, suggesting a potential genetic susceptibility rather than a sole cause.

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Area of Science:

Genetics
Neurocutaneous Syndromes
Molecular Biology

Background:

PHACE syndrome is a complex neurocutaneous disorder with unknown etiology.
Genetic factors are suspected but not definitively identified.
The 7q33 chromosomal region has been implicated in previous studies.

Observation:

A complete deletion of SLC35B4 was identified in one PHACE syndrome patient.
Sequencing of SLC35B4 in 33 patients revealed polymorphisms but no causative mutations.
Copy number variation analysis identified a deletion upstream of SLC35B4 in a second patient.

Findings:

Deletions in the 7q33 region, including SLC35B4 and AKR1B1, were observed in PHACE syndrome patients.
No disease-causing mutations in SLC35B4 were found.
The identified deletions are unlikely to be the sole cause of PHACE syndrome.

Implications:

The 7q33 region may contribute to genetic susceptibility for PHACE syndrome.
Environmental or other genetic factors likely interact with deletions for phenotypic expression.
Further research is needed to elucidate the complete pathogenesis of PHACE syndrome.