DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome

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DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome Lorraine Potocki, Ken-Shiung Chen, Thearith Koeuth, James Killian, Susan T. Iannaccone, Stuart K. Shapira, Catherine D. Kashork, Aimee S. Spikes, Lisa G. Shaffer, James R. Lupski The American Journal of Human Genetics Volume 64, Issue 2, Pages 471-478 (February 1999) DOI: 10.1086/302240 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Chromosome analysis of patient 1006. Ideogram of chromosome 17 is shown on the left. The left chromosome 17 of each pair is the dup(17)(p11.2p11.2) chromosome. The right one is the submicroscopic HNPP deletion chromosome. The American Journal of Human Genetics 1999 64, 471-478DOI: (10.1086/302240) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Representative results of the FISH analyses. A, Patient 1006. The FLI locus (green) is duplicated on one chromosome 17. The PMP22 locus (red) is deleted on the other homologue. B, Patient 1006. The tandem nature of the duplication is shown for two cells (see inset); probes for the FLI locus (red) and cosmid c86e11 (green) were used. C, The proband's mother, 1005. D, The proband's maternal grandfather, 1160. The other homologue is normal (nl). The PMP22 locus (red) is deleted on one chromosome 17. For A, C, and D, the PMP22 cosmids were labeled with digoxigenin and detected with antidigoxigenin conjugated to rhodamine, which fluoresced red. In B, the FLI contig was labeled with digoxigenin and detected with antidigoxigenin conjugated to rhodamine, which fluoresced red. The FLI contig (in A, C, and D) and the c86e11 probe (in B) were labeled with biotin and detected with avidin conjugated to FITC, which fluoresced green. The American Journal of Human Genetics 1999 64, 471-478DOI: (10.1086/302240) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Southern blot analysis revealing the identification of the 7.8-kb HNPP-specific junction fragment in patient 1006 and family members (1160, 1188, 1187, 1005, and 1186) affected with peripheral neuropathy. Lanes 1 and 2 are control YAC clones containing proximal and distal CMT1A-REP, respectively. Lanes 3, 4, and 5 are control genomic DNA from an unaffected individual, a CMT1A duplication patient with the common crossover, and an HNPP patient with the common crossover. Note the 7.8-kb HNPP-specific junction fragment identified by means of a CMT1A-REP probe and not observed in the genomic YACs or in unaffected and CMT1A duplication controls. This HNPP junction fragment cosegregates with carpal tunnel syndrome in this family (lanes 6–15). The American Journal of Human Genetics 1999 64, 471-478DOI: (10.1086/302240) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 A 1.2-Mb junction fragment identified by PFGE. NotI-digested PFGE-separated genomic DNA from family HOU365 was probed with a CLP gene fragment from the SMS-REP. A unique apparent junction fragment (JCT) of ∼1.2 Mb was identified in patient 1006. This junction fragment is present in patient 1006 but not in her parents or other family members. The American Journal of Human Genetics 1999 64, 471-478DOI: (10.1086/302240) Copyright © 1999 The American Society of Human Genetics Terms and Conditions