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Inheritance of Charcot–Marie–Tooth disease 1A with rare nonrecurrent genomic rearrangement

Content Provider	Springer Nature Link
Author	Choi, Byung Ok Kim, Nam Keun Park, Sun Wha Hyun, Young Se Jeon, Hyeon Jeong Hwang, Jung Hee Chung, Ki Wha
Copyright Year	2010
Abstract	Rare copy number variations by the nonrecurrent rearrangements involving PMP22 have been recently suggested to be associated with CMT1A peripheral neuropathy. As a mechanism of the nonrecurrent rearrangement, replication-based fork stalling template switching (FoSTeS) by microhomology-mediated break-induced replication (MMBIR) has been proposed. We found three Korean CMT1A families with putative nonrecurrent duplication. The duplications were identified by microsatellite typing and applying a CGH microarray. The breakpoint sequences in two families suggested an Alu–Alu-mediated rearrangement with the FoSTeS by the MMBIR, and a two-step rearrangement of the replication-based FoSTeS/MMBIR and meiosis-based recombination. The two-step mechanism has still not been reported. Segregation analysis of 17p12 microsatellite markers and breakpoint junction analysis suggested that the nonrecurrent rearrangements are stably inherited without alteration of junction sequence; however, they may allow some alteration of the genomic contents in duplication across generations by recombination event. It might be the first study on the pedigree analysis of the large CMT1A families with nonrecurrent rearrangements. It seems that the exact mechanism of the nonrecurrent rearrangements in the CMT1A may have a far more complex process than has been expected.
Starting Page	51
Ending Page	58
Page Count	8
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	12
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2010-12-31
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Alu sequence Charcot–Marie–Tooth disease 1A (CMT1A) Copy number variation FoSTeS MMBIR Nonrecurrent rearrangement PMP22 Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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Inheritance of Charcot–Marie–Tooth disease 1A with rare nonrecurrent genomic rearrangement

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Inheritance of Charcot–Marie–Tooth disease 1A with rare nonrecurrent genomic rearrangement