Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)

Victor Ionasescu; Charles Searby; Val C Sheffield; Tatiana Roklina; Darrell Nishimura; Rebecca Ionasescu

doi:10.1093/hmg/5.9.1373

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Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)

Journal article

Peer reviewed

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)

Victor Ionasescu, Charles Searby, Val C Sheffield, Tatiana Roklina, Darrell Nishimura and Rebecca Ionasescu

Human molecular genetics, Vol.5(9), pp.1373-1375

1996

DOI: 10.1093/hmg/5.9.1373

PMID: 8872480

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Abstract

Clinical, electrophysiological and genetic linkage studies were performed on a large autosomal dominant family with Charcot-Marie-Tooth axonal neuropathy type 2 (CMT2) with 38 members of which 14 were affected. Onset of the disease was between 16 and 30 years of age with weakness and atrophy of the hands more severe than of the feet with slow progressive course in 12 patients. Deep tendon reflexes were absent in the upper extremities and decreased in the lower extremities. There was distal hypesthesia for touch, proprioception and vibration sense for the hands more than for the feet. Motor nerve conduction velocities showed normal values (48–53 M/s) with normal latencies (2–3 msec) and electromyography revealed signs of denervation. Genetic linkage analysis used 167 short tandem repeat markers (STRPs) spaced throughout the 22 autosomes. Linkage to the short arm of chromosome 7 at 7p14 was found using the marker D7S435(Z = 4.83 at θ = 0). Flanking markers were D7S1808 and D7S1806 and the genetic distance between them was 6.8 cM. The multipoint linkage analysis gave a peak multipoint lod score of 6.89 between the markers D7S1808 and D7S435. Linkage analysis showed significantly negative lod scores (with values less than −2) with markers of chromosomes 1 and 3 where CMT axonal forms have been previously mapped. PFGE analysis indicated the absence of the CMT1A duplication. Our findings are consistent with a new genetic type of axonal CMT neuropathy designated by us as CMT2D. Potential candidate genes are multiple T-cell gamma receptor genes which map to the same cytogenetic interval as CMT2D neuropathy.

Neurology

Biological and medical sciences

Medical sciences

Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Details

Title: Subtitle: Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
Creators: Victor Ionasescu - Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals, Iowa City, Iowa, 52242, United States
Charles Searby - Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals, Iowa City, Iowa, 52242, United States
Val C Sheffield - Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals, Iowa City, Iowa, 52242, United States
Tatiana Roklina - Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals, Iowa City, Iowa, 52242, United States
Darrell Nishimura - Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals, Iowa City, Iowa, 52242, United States
Rebecca Ionasescu - Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals, Iowa City, Iowa, 52242, United States
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.5(9), pp.1373-1375
DOI: 10.1093/hmg/5.9.1373
PMID: 8872480
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: Oxford University Press; Oxford
Language: English
Date published: 1996
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9984065395502771

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