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. 1997 Oct;17(2):154-63.
doi: 10.1038/ng1097-154.

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

K S Chen  1 , P Manian, T Koeuth, L Potocki, Q Zhao, A C Chinault, C C Lee, J R Lupski
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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

K S Chen et al. Nat Genet. 1997 Oct.

Abstract

Smith-Magenis syndrome (SMS), caused by del(17)p11.2, represents one of the most frequently observed human microdeletion syndromes. We have identified three copies of a low-copy-number repeat (SMS-REPs) located within and flanking the SMS common deletion region and show that SMS-REP represents a repeated gene cluster. We have isolated a corresponding cDNA clone that identifies a novel junction fragment from 29 unrelated SMS patients and a different-sized junction fragment from a patient with dup(17)p11.2. Our results suggest that homologous recombination of a flanking repeat gene cluster is a mechanism for this common microdeletion syndrome.

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