Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E)

Calia, Leandro Cortoni; Marques, Wilson; Gouvea, Silmara P.; Lourenço, Charles Marques; Oliveira, Acary Sb

doi:10.1590/0004-282x20130031

Cited by 1 publication

(1 citation statement)

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“…His parents were considered to be unaffected by history taking, but genetic testing was not done. As a mutation of the same amino acid site, a p.L16P was reported in CMT1E with proptosis [ 29 ] and Dejerine-Sottas neuropathy patients [ 12 ]. The c.68C>G (p.T23R) mutation was found in three CMT1 families (FC50, FC303, and FC680).…”

Section: Resultsmentioning

confidence: 99%

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients

Jung

Kwon

Nam

et al. 2022

Genes

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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.

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Section: Resultsmentioning

confidence: 99%