Chance P F, Alderson M K, Leppig K A, Lensch M W, Matsunami N, Smith B, Swanson P D, Odelberg S J, Disteche C M, Bird T D
Department of Pediatrics, University of Utah Medical Center, Salt Lake City 84132.
Cell. 1993 Jan 15;72(1):143-51. doi: 10.1016/0092-8674(93)90058-x.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that causes episodes of focal demyelinating neuropathy following minor trauma to peripheral nerves. We assign the HNPP locus to chromosome 17p11.2 and demonstrate the presence of a large interstitial deletion associated with this disorder in three unrelated pedigrees. De novo deletion is documented in one pedigree. The deleted region appears uniform in all pedigrees and includes the gene for peripheral myelin protein 22 (PMP-22), suggesting that underexpression of PMP-22 may cause HNPP. The deletion in HNPP spans approximately 1.5 Mb and includes all markers that are known to map within the Charcot-Marie-Tooth neuropathy type 1A (CMT1A) duplication. Furthermore, the breakpoints in HNPP and CMT1A map to the same intervals in 17p11.2, suggesting that these genetic disorders may be the result of reciprocal products of unequal crossover.
遗传性压力易感性周围神经病（HNPP）是一种常染色体显性疾病，可在外周神经受到轻微创伤后引发局灶性脱髓鞘性神经病发作。我们将HNPP基因座定位于染色体17p11.2，并在三个无亲缘关系的家系中证实了与该疾病相关的大片段间质缺失的存在。在一个家系中记录到了新发缺失。在所有家系中，缺失区域似乎是一致的，并且包括外周髓鞘蛋白22（PMP - 22）基因，这表明PMP - 22表达不足可能导致HNPP。HNPP中的缺失跨度约为1.5 Mb，包括所有已知定位于1型遗传性运动感觉神经病（CMT1A）重复区域内的标记。此外，HNPP和CMT1A的断点定位于17p11.2的相同区间，这表明这些遗传性疾病可能是不等交换的相互产物导致的。
