A Family Harboring CMT1A Duplication and HNPP Deletion

Lee, Jung Hwa; Kang, Hee Jin; Song, Hyunseok; Hwang, Su Jin; Cho, Sun-Young; Kim, Sang-Beom; Kim, Joonki; Chung, Ki Wha; Choi, Byung‐Ok

doi:10.3988/jcn.2007.3.2.101

Cited by 9 publications

(6 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Also, no CMT1A patients showed absent distortion product otoacoustic emission (DPOAE). Motor nerve conduction velocities (MNCV) of the median nerve in all CMT1A patients were decreased (ranging from 12 to 38 m/s) compared to normative data (normal value ≥ 50.5 m/s) 9 . However, compound muscle action potential (CMAP) of the median nerve was decreased only in 7 CMT1A patients compared to normative data (normal value ≥ 6 mV).…”

Section: Resultsmentioning

confidence: 71%

Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A

Choi

Seok

Ahn

et al. 2018

Sci Rep

Self Cite

View full text Add to dashboard Cite

The aim of this study was to investigate hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1 A (CMT1A), a common inherited demyelinating neuropathy. By using pure-tone audiometry, 43 patients with CMT1A and 60 healthy controls with normal sound detection abilities were enrolled. Speech perception in quiet and noisy backgrounds, spectral ripple discrimination (SRD), and temporal modulation detection (TMD) were measured. Although CMT1A patients and healthy controls had similar pure-tone thresholds and speech perception scores in a quiet background, CMT1A patients had significantly (p < 0.05) decreased speech perception ability in a noisy background compared to controls. CMT1A patients showed significantly decreased temporal and spectral resolution (both p < 0.05). Also, auditory temporal processing of CMT1A patients was correlated with speech perception in a noisy background (r = 0.447, p < 0.01) and median motor conduction velocity (r = 0.335, p < 0.05). Therefore, we assumed that demyelination of auditory nerve in CMT1A causes defective cochlear neurotransmission, which reduces temporal resolution and speech perception in a noisy background. Because the temporal resolution test was well correlated with the degree of demyelination in auditory and peripheral motor nerves, temporal resolution testing could be performed as an additional marker for CMT1A.

show abstract

Section: Resultsmentioning

confidence: 71%

Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A

Choi

Seok

Ahn

et al. 2018

Sci Rep

Self Cite

View full text Add to dashboard Cite

show abstract

“…Genomic DNA was extracted from peripheral blood using a QIAamp DNA blood mini kit (Qiagen, Hilden, Germany). A duplication/deletion of 1.4 Mbp in length on 17p12 (including PMP22 ), which is the most frequent genetic cause of CMT, was pre‐screened by genotyping six microsatellites within the 17p12 and quantitative real‐time polymerase chain reaction (PCR) for PMP22 dosage.…”

Section: Methodsmentioning

confidence: 99%

“…A duplication/deletion of 1.4 Mbp in length on 17p12 (including PMP22), which is the most frequent genetic cause of CMT, was pre-screened by genotyping six microsatellites within the 17p12 (22) and quantitative real-time polymerase chain reaction (PCR) for PMP22 dosage. A duplication/deletion of 1.4 Mbp in length on 17p12 (including PMP22), which is the most frequent genetic cause of CMT, was pre-screened by genotyping six microsatellites within the 17p12 (22) and quantitative real-time polymerase chain reaction (PCR) for PMP22 dosage.…”

Section: Subjectsmentioning

confidence: 99%

A cohort study of MFN2 mutations and phenotypic spectrums in Charcot–Marie–Tooth disease 2A patients

et al. 2014

View full text Add to dashboard Cite

Charcot-Marie-Tooth disease 2A (CMT2A) is the most common axonal form of peripheral neuropathy caused by a defect in the mitofusin 2 (MFN2) gene, which encodes an outer mitochondrial membrane GTPase. MFN2 mutations result in a large range of phenotypes. This study analyzed the prevalence of MFN2 mutation in Korean families with their assorted phenotypes (607 CMT families and 160 CMT2 families). Direct sequencing of the MFN2 coding exons or whole-exome sequencing has been applied to identify causative mutations. A total of 21 mutations were found in 36 CMT2 families. Comparative genotype-phenotype correlations impacting severity, onset age, and specific symptoms were assessed. Most mutations were seen in the GTPase domain (∼86%). A deletion mutation found in the transmembrane helices is reported for the first time, as well as five novel mutations at other domains. MFN2 mutations made up 5.9% of total CMT families, whereas 22.9% in CMT2 families, of which 27.8% occurred de novo. Interestingly, patient phenotypes ranged from mild to severe even for the same mutation, suggesting other factors influenced phenotype and penetrance. This CMT2A cohort study will be useful for molecular diagnosis and treatment of axonal neuropathy.

show abstract

“…When stimulating at the elbow, median motor NCV was 20.0 m/sec, and CMAP was 9.5 mV, but SNAPs were not recordable. In this FC270 family, we identified duplication of the PMP22 gene in nine family members by genotyping six microsatellites within the 17p11.2-p12 duplication region ( 11 ). The duplication was well cosegregated with familial members diagnosed with demyelinating CMT1 ( Fig.…”

Section: Case Reportmentioning

confidence: 99%

Charcot-Marie-Tooth 1A Concurrent with Schwannomas of the Spinal Cord and Median Nerve

et al. 2009

Self Cite

View full text Add to dashboard Cite

We identified Charcot-Marie-Tooth disease type 1A (CMT1A) in a family with schwannomas in the spinal cord and median nerve. The CMT1A in this family showed an autosomal dominant pattern, like other CMT patients with PMP22 duplication, and the family also indicated a possible genetic predisposition to schwannomas by 'mother-to-son' transmission. CMT1A is mainly caused by duplication of chromosome 17p11.2-p12 (PMP22 gene duplication). A schwannoma is a benign encapsulated tumor originating from a Schwann cell. A case of hereditary neuropathy with liability to pressure palsies (HNPP) concurrent with schwannoma has been previously reported. Although it seems that the co-occurrence of CMT1A and schwannomas in a family would be the result of independent events, we could not completely ignore the possibility that the coincidence of two diseases might be due to a shared genetic background.

show abstract

A Family Harboring CMT1A Duplication and HNPP Deletion

Cited by 9 publications

References 10 publications

Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A

Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A

A cohort study of MFN2 mutations and phenotypic spectrums in Charcot–Marie–Tooth disease 2A patients

Charcot-Marie-Tooth 1A Concurrent with Schwannomas of the Spinal Cord and Median Nerve

Contact Info

Product

Resources

About