A novel Asp121Asn mutation of myelin protein zero is associated with late-onset axonal Charcot-Marie-Tooth disease, hearing loss and pupil abnormalities
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot–Marie–Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine–Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report pheno...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2016-09-01
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| Series: | Frontiers in Aging Neuroscience |
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| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fnagi.2016.00222/full |
| _version_ | 1811204010208657408 |
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| author | Xiaohui Duan Xiaohui Duan Weihong Gu Ying Hao Renbin Wang Hong Wen Shaojie Sun Jinsong Jiao Dongsheng Fan |
| author_facet | Xiaohui Duan Xiaohui Duan Weihong Gu Ying Hao Renbin Wang Hong Wen Shaojie Sun Jinsong Jiao Dongsheng Fan |
| author_sort | Xiaohui Duan |
| collection | DOAJ |
| description | Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot–Marie–Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine–Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on 9 family members and 200 controls. Clinical, electrophysiological and skeletal muscle MRI assessments were available for review in 6 family members. A novel heterozygous missense mutation, Asp121Asn, was observed in 5 affected members of the family. Unaffected relatives and 200 normal controls were without the mutation. Four of the affected members of the family displayed late-onset, predominantly axonal sensory and motor neuropathy, pupil abnormalities, and progressive sensorineural hearing loss. One young affected member presented with Argyll–Robertson pupils and diminished deep tendon reflexes in the lower limbs. The MPZ mutation Asp121Asn may be associated with late-onset axonal neuropathy, early-onset hearing loss and pupil abnormalities. Our report expands the number and phenotypic spectrum of MPZ mutations. |
| first_indexed | 2024-04-12T03:05:32Z |
| format | Article |
| id | doaj.art-f9545cbcea684e56abd567d62ceb5fd7 |
| institution | Directory Open Access Journal |
| issn | 1663-4365 |
| language | English |
| last_indexed | 2024-04-12T03:05:32Z |
| publishDate | 2016-09-01 |
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| record_format | Article |
| series | Frontiers in Aging Neuroscience |
| spelling | doaj.art-f9545cbcea684e56abd567d62ceb5fd72022-12-22T03:50:32ZengFrontiers Media S.A.Frontiers in Aging Neuroscience1663-43652016-09-01810.3389/fnagi.2016.00222211890A novel Asp121Asn mutation of myelin protein zero is associated with late-onset axonal Charcot-Marie-Tooth disease, hearing loss and pupil abnormalitiesXiaohui Duan0Xiaohui Duan1Weihong Gu2Ying Hao3Renbin Wang4Hong Wen5Shaojie Sun6Jinsong Jiao7Dongsheng Fan8Peking University Third HospitalChina-Japan Friendship HospitalChina-Japan Friendship HospitalChina-Japan Friendship HospitalChina-Japan Friendship HospitalChina-Japan Friendship HospitalChina-Japan Friendship HospitalChina-Japan Friendship HospitalPeking University Third HospitalMyelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot–Marie–Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine–Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on 9 family members and 200 controls. Clinical, electrophysiological and skeletal muscle MRI assessments were available for review in 6 family members. A novel heterozygous missense mutation, Asp121Asn, was observed in 5 affected members of the family. Unaffected relatives and 200 normal controls were without the mutation. Four of the affected members of the family displayed late-onset, predominantly axonal sensory and motor neuropathy, pupil abnormalities, and progressive sensorineural hearing loss. One young affected member presented with Argyll–Robertson pupils and diminished deep tendon reflexes in the lower limbs. The MPZ mutation Asp121Asn may be associated with late-onset axonal neuropathy, early-onset hearing loss and pupil abnormalities. Our report expands the number and phenotypic spectrum of MPZ mutations.http://journal.frontiersin.org/Journal/10.3389/fnagi.2016.00222/fullHearing LossNovel mutationMyelin protein zeroCharcot–Marie–Tooth diseasepupil abnormalities |
| spellingShingle | Xiaohui Duan Xiaohui Duan Weihong Gu Ying Hao Renbin Wang Hong Wen Shaojie Sun Jinsong Jiao Dongsheng Fan A novel Asp121Asn mutation of myelin protein zero is associated with late-onset axonal Charcot-Marie-Tooth disease, hearing loss and pupil abnormalities Frontiers in Aging Neuroscience Hearing Loss Novel mutation Myelin protein zero Charcot–Marie–Tooth disease pupil abnormalities |
| title | A novel Asp121Asn mutation of myelin protein zero is associated with late-onset axonal Charcot-Marie-Tooth disease, hearing loss and pupil abnormalities |
| title_full | A novel Asp121Asn mutation of myelin protein zero is associated with late-onset axonal Charcot-Marie-Tooth disease, hearing loss and pupil abnormalities |
| title_fullStr | A novel Asp121Asn mutation of myelin protein zero is associated with late-onset axonal Charcot-Marie-Tooth disease, hearing loss and pupil abnormalities |
| title_full_unstemmed | A novel Asp121Asn mutation of myelin protein zero is associated with late-onset axonal Charcot-Marie-Tooth disease, hearing loss and pupil abnormalities |
| title_short | A novel Asp121Asn mutation of myelin protein zero is associated with late-onset axonal Charcot-Marie-Tooth disease, hearing loss and pupil abnormalities |
| title_sort | novel asp121asn mutation of myelin protein zero is associated with late onset axonal charcot marie tooth disease hearing loss and pupil abnormalities |
| topic | Hearing Loss Novel mutation Myelin protein zero Charcot–Marie–Tooth disease pupil abnormalities |
| url | http://journal.frontiersin.org/Journal/10.3389/fnagi.2016.00222/full |
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