Chapter

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

Melanie Lacaria, Weimin Bi and James R. Lupski

in Epstein's Inborn Errors of Development

Third edition

Published on behalf of Oxford University Press

Published in print June 2016 | ISBN: 9780199934522
Published online July 2016 | e-ISBN: 9780190213534 | DOI: https://dx.doi.org/10.1093/med/9780199934522.003.0134

Series: Oxford Monographs on Medical Genetics

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

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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.

Chapter.  7000 words.  Illustrated.

Subjects: Clinical Genetics

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