caa a22 4500 445364459 CHVBK 20180317142925.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s10048-010-0272-3 doi (NATIONALLICENCE)springer-10.1007/s10048-010-0272-3 Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement [Elektronische Daten] [Byung-Ok Choi, Nam Kim, Sun Park, Young Hyun, Hyeon Jeon, Jung Hwang, Ki Chung] 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. Springer-Verlag, 2010 Alu sequence nationallicence Charcot-Marie-Tooth disease 1A (CMT1A) nationallicence Copy number variation nationallicence FoSTeS nationallicence MMBIR nationallicence Nonrecurrent rearrangement nationallicence PMP22 nationallicence Choi Byung-Ok Department of Neurology, School of Medicine, Ewha Womans University, Seoul, South Korea aut Kim Nam Institute for Clinical Research, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam, South Korea aut Park Sun Department of Biological Science, Kongju National University, 182 Sinkwan-dong, 314-701, Kongju, Chungnam, South Korea aut Hyun Young Department of Biological Science, Kongju National University, 182 Sinkwan-dong, 314-701, Kongju, Chungnam, South Korea aut Jeon Hyeon Department of Biological Science, Kongju National University, 182 Sinkwan-dong, 314-701, Kongju, Chungnam, South Korea aut Hwang Jung DNA Analysis Division, National Forensic Service, 158-097, Seoul, South Korea aut Chung Ki Department of Biological Science, Kongju National University, 182 Sinkwan-dong, 314-701, Kongju, Chungnam, South Korea aut neurogenetics Springer-Verlag 12/1(2011-02-01), 51-58 1364-6745 12:1<51 2011 12 10048 https://doi.org/10.1007/s10048-010-0272-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-010-0272-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Choi Byung-Ok Department of Neurology, School of Medicine, Ewha Womans University, Seoul, South Korea aut NATIONALLICENCE 700 1- Kim Nam Institute for Clinical Research, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam, South Korea aut NATIONALLICENCE 700 1- Park Sun Department of Biological Science, Kongju National University, 182 Sinkwan-dong, 314-701, Kongju, Chungnam, South Korea aut NATIONALLICENCE 700 1- Hyun Young Department of Biological Science, Kongju National University, 182 Sinkwan-dong, 314-701, Kongju, Chungnam, South Korea aut NATIONALLICENCE 700 1- Jeon Hyeon Department of Biological Science, Kongju National University, 182 Sinkwan-dong, 314-701, Kongju, Chungnam, South Korea aut NATIONALLICENCE 700 1- Hwang Jung DNA Analysis Division, National Forensic Service, 158-097, Seoul, South Korea aut NATIONALLICENCE 700 1- Chung Ki Department of Biological Science, Kongju National University, 182 Sinkwan-dong, 314-701, Kongju, Chungnam, South Korea aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/1(2011-02-01), 51-58 1364-6745 12:1<51 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer