A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

Joo, In Soo; Ki, Chang‐Seok; Joo, Sung Yeol; Huh, Kyu Ha; Kim, Jong-Won

doi:10.1016/j.nmd.2004.02.009

Cited by 21 publications

(18 citation statements)

References 14 publications

(15 reference statements)

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“…In 6 affected families, an autosomal dominant mode of inheritance was documented for Thr23Arg, Thr28Gln, Val65Phe, Ala67Pro, Leu71Pro and Ala115Thr118del mutations (Boerkoel et al 2002;Joo et al 2004;Huehne et al 2003;Kovach et al 1999;Jen et al 2005;Sambuughin et al 2003). A severe CMT phenotype with hearing impairment was shown to be associated with the Ser76Ile and Ser72Leu mutations detected in sporadic CMT cases (Tyson et al 1997;Ionasescu et al 1996).…”

Section: Discussionmentioning

confidence: 97%

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in thePMP22 gene, coexisting with a slowly progressive hearing impairment

Kabzińska

Sinkiewicz–Darol

Hausmanowa-Pétrusewicz

et al. 2010

J Appl Genet

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Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a mixed phenotype of CMT and hearing impairment. In this study, we report a new Ser112Arg mutation in the PMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade of life. We suggest that the Ser112Arg mutation in the PMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated with PMP22 gene mutations.

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Section: Discussionmentioning

confidence: 97%

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in thePMP22 gene, coexisting with a slowly progressive hearing impairment

Kabzińska

Sinkiewicz–Darol

Hausmanowa-Pétrusewicz

et al. 2010

J Appl Genet

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“…Hearing loss has been described in CMT1A (PMP22 gene) [Alcin et al, 2000;Boerkoel et al, 2002;Kovach et al, 2002;Joo et al, 2004], in CMT1B (MPZ gene) [Starr et al, 2003], in CMTX (X-linked PRPS-1 mutations) [Synofzik et al, 2014;Gandia et al, 2015], in CMT4C [Yger et al, 2012;Sivera et al, 2017], and in CMT4B3 [Manole et al, 2017]. Vestibular abnormalities detected by electrophysiology have been described in CMT [Poretti et al, 2013].…”

Section: Discussionmentioning

confidence: 99%

“…Progressive sensorineural hearing loss has been described as part of the clinical presentation in several genetic forms of CMT, including various mutations in the MPZ gene [Chapon et al, 1999;De Jonghe et al, 1999;Alcin et al, 2000;Misu et al, 2000;Starr et al, 2003;Kochanski et al, 2004;Seeman et al, 2004;Leal et al, 2014;Tokuda et al, 2015;Duan et al, 2016], in kinships demonstrating mutations in the peripheral myelin protein (PMP22) gene [Alcin et al, 2000;Boerkoel et al, 2002;Kovach et al, 2002;Joo et al, 2004], in X-linked phosphoribosyl pyrophosphate synthetase-1 (PRPS-1) mutations [Synofzik et al, 2014;Gandia et al, 2015], and in CMT4C [Sivera et al, 2017].…”

Section: Introductionmentioning

confidence: 99%

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the <b><i>MPZ</i></b> Gene

et al. 2018

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Charcot-Marie-Tooth (CMT) syndrome is a clinically and genetically heterogeneous group of neuropathies affecting both peripheral motor and sensory nerves. Progressive sensorineural hearing loss, vestibular abnormalities, and dysfunction of other cranial nerves have been described. This is the second case report of otopathology in a patient with CMT syndrome. Molecular genetic testing of DNA obtained at autopsy revealed a missense variant in the MPZ gene (p.Thr65Ala), pathogenic for an autosomal-dominant form of CMT1B. The temporal bones were also prepared for light microscopy by hematoxylin and eosin and Gömöri trichome stains, and immunostaining for anti-myelin protein zero. Pathology was consistent with a myelinopathy of the auditory, vestibular, and facial nerves bilaterally. The pathophysiology of cranial nerve dysfunction in CMT is unknown. Findings in the current case suggested, at least in cranial nerves 7 and 8, that a myelinopathy may be causative.

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“…There have been several prior reports of hearing loss associated with missense mutations in PMP22 but it is unclear whether any of these patients were tested for vestibular loss [1][2][3][4][5][6]. One patient was reported with hearing loss and nystagmus but the nystagmus was probably of central origin [3].…”

Section: Discussionmentioning

confidence: 99%

Dejerine–Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene

Jen

Baloh

Ishiyama

et al. 2005

Journal of the Neurological Sciences

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A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

Cited by 21 publications

References 14 publications

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in thePMP22 gene, coexisting with a slowly progressive hearing impairment

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in thePMP22 gene, coexisting with a slowly progressive hearing impairment

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the <b><i>MPZ</i></b> Gene

Dejerine–Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene

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