Cell
ArticleDNA deletion associated with hereditary neuropathy with liability to pressure palsies
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Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies
2022, Neuromuscular DisordersCitation Excerpt :Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disease that is characterized by recurrent transient nerve palsies associated with compression at entrapment sites [1]. HNPP is usually caused by the deletion of a 1.5-Mb region on chromosome 17p11.2 that contains the gene encoding peripheral myelin protein 22 (PMP22) [1]. Therefore, HNPP is considered a counterpart of Charcot–Marie–Tooth disease type 1A (CMT1A), which is caused by PMP22 duplication [2].
Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine
2022, Trends in GeneticsCitation Excerpt :Human chromosome 17p12 CNV (Figures 2, 4, and 5), primarily the CMT1A duplication and HNPP deletion alleles (Figure S1 in the supplemental information online), are the most frequent variant alleles found in CMT patients, families, and neuropathy disease clinical populations [57]. Whilst CNV alleles at the PMP22 locus (i.e., CMT1A duplication [51], HNPP deletion [58], and triplication of the locus) (Figure 4, Figure S1 in the supplemental information online) have illuminated gene dosage and its role in DSP, SNV studies and allelic series have crystallized gain-of-function (GoF) versus loss-of-function (LoF) mutation effects (Figure 5) for CNV and the role of GoF/LoF alleles in both AD and AR DSP disease traits. Of note, several mutational models (Figure 2A) were proposed based on the experimentally ascertained genomic variation from personal whole-genome sequencing (WGS) [59] and exome sequencing (ES) analysis [17,60] of CMT and DSP patients, including studies on my own genome.
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2021, Neuromuscular Disorders: Treatment and ManagementTargeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases
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