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Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

Crossref DOI link: https://doi.org/10.1007/s00439-016-1703-5

Published Online: 2016-07-07

Published Print: 2016-10

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Yuan, Bo

Neira, Juanita

Gu, Shen

Harel, Tamar

Liu, Pengfei

Briceño, Ignacio

Elsea, Sarah H.

Gómez, Alberto

Potocki, Lorraine

Lupski, James R.
Funding

Funding for this research was provided by:

National Human Genome Research Institute (HG006542)

National Institute of Neurological Disorders and Stroke (NS058529)

National Institute of General Medical Sciences (GM106373, GM007526)

National Institute of Child Health and Human Development (HD024064)

Intellectual and Developmental Disabilities Research Center

National Eye Institute (EY021163 and EY019861)

Smith-Magenis Syndrome Research Foundation
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Article History

Received: 25 May 2016

Accepted: 21 June 2016

First Online: 7 July 2016

Compliance with ethical standards

:

: JR.L. has stock ownership in 23andMe, is a paid consultant for Regeneron Pharmaceuticals, has stock options in Lasergen Inc., is a member of the Scientific Advisory Board of Baylor Miraca Genetics Laboratories, and is a co-inventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the chromosomal microarray analysis (CMA) and clinical exome sequencing offered in the Baylor Miraca Genetics Laboratory.

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