SUMMARY:
The ical and electrophysiological symptoms of the CMT1E patients were more severely damaged than those of CMT1A while similar to CMT1B caused by MPZ mutations.
TITLE:
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients
DESCRIPTION:
Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) usually cause CMT type 1E (CMT1E) or HNPP. This study was performed to identify PMP22 mutations and to analyze the genotype-phenotype correlation in Korean CMT families. By the application of whole-exome sequencing (WES) and…
CONTENT:
Genes (Basel). 2022 Jul 8;13(7):1219. doi: 10.3390/genes13071219.
ABSTRACT
Duplication and deletion of the peripheral myelin protein 22 (PMP22 ) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) usually cause CMT type 1E (CMT1E) or HNPP. This study was performed to identify PMP22 mutations and to analyze the genotype-phenotype correlation in Korean CMT families. By the application of whole-exome sequencing (WES) and targeted gene panel sequencing (TS), we identified 14 pathogenic or likely pathogenic PMP22 mutations in 21 families out of 850 CMT families who were negative for 17p12 (PMP22 ) duplication. Most mutations were located in the well-conserved transmembrane domains. Of these, eight mutations were not reported in other populations. High frequencies of de novo mutations were observed, and the mutation sites of c.68C>G and c.215C>T were suggested as the mutational hotspots. Affected individuals showed an early onset-severe phenotype and late onset-mild phenotype, and more than 40% of the CMT1E patients showed hearing loss. Physical and electrophysiological symptoms of the CMT1E patients were more severely damaged than those of CMT1A while similar to CMT1B caused by MPZ mutations. Our results will be useful for the reference data of Korean CMT1E and the molecular diagnosis of CMT1 with or without hearing loss.
PMID:35886002 | DOI:10.3390/genes13071219
SOURCE:
Genes
TAGS:
CMT1E
CATEGORY:
Research
SUBCATEGORY:
n/a
DATE – PUBLISHED:
2022-07-08T16:36:47Z
DATE – DOI: 2022-07-08T16:36:47Z
DATE – PUBMED: 2022 Jul 8
DATE OUTPUT MATCHED: True
DATE – ADDED:
Wed, 27 Jul 2022 06:00:00 -0400
DATE – RETRIEVED:
07/27/22 07:56AM
2022-07-27T07:56:25-04:00
FEATURED IMAGE:
Media Uploaded (image/png)
IDENTIFIER:
pmid:35886002,doi:10.3390/genes13071219
PUBMED ID:
pubmed:35886002
DOI:
10.3390/genes13071219
LINK – PUBMED:
https://pubmed.ncbi.nlm.nih.gov/35886002/
LINK – DOI:
https://doi.org/10.3390/genes13071219
LINK – PUBLISHER:
https://www.mdpi.com/2073-4425/13/7/1219
REFERENCES:
CMT Treatment Report, Urgent Research, 2022-07-27T07:56:25-04:00, https://www.cmttreatmentreport.com.