Show Summary Details
Page of

RAI1, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome 

RAI1, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome
Chapter:
RAI1, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome
Author(s):

Melanie Lacaria

, Weimin Bi

, and James R. Lupski

DOI:
10.1093/med/9780199934522.003.0134
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2016. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 16 December 2019

Smith-Magenis and Potocki-Lupski syndromes are two prototypical genomic disorders caused by reciprocal deletion or duplication, respectively, of chromosome 17p11.2. The recurrent SMS/PTLS-associated chromosomal rearrangements are generated by nonallelic homologous recombination mediated by the complex genomic architecture of this region, including multiple LCRs. Point mutations in the dosage-sensitive gene RAI1 have also been determined to cause SMS, and altered copy number of RAI1 is likely responsible for the majority of the common features of both SMS and PTLS. Genomic and molecular analyses in patients have elucidated mechanisms for genomic rearrangements. Studies of both human patients and mouse models for these disorders have illuminated syndrome-associated phenotypic features, including autism and other neurobehavioral features, as well as the underlying molecular genetics and pathogenesis.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.