Charcot-marie-tooth neuropathy related to chromosome 1

✍ Scribed by Ionasescu, Victor V. ;Trofatter, James ;Haines, Jonathan L. ;Ionasescu, Rebecca ;Searby, Charles

• Book ID: 101443624
• Publisher: John Wiley and Sons
• Year: 1992
• Tongue: English
• Weight: 439 KB
• Volume: 42
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320420521

✦ Synopsis

One family with documented male-to-male transmission of Charcot-Marie-Tooth (CMT) neuropathy was studied clinically and by genetic linkage. Patients had progressive distal weakness and atrophy, areflexia, and distal sensory loss, but early onset (before age 3 years) in all 5 cases, and phrenic nerve involvement in the propositus (a 39-year-old woman) requiring CPAP ventilator support during the night. Motor-nerve conduction velocities (MNCVs) were significantly slow, consistent with severe demyelinating neuropathy. Electromyography (EMG) data were normal. Two-point and multipoint linkage analyses strongly suggested the presence of a CMT gene on chromosome lq. A maximum multipoint lod score of 2.70 was obtained at MUG1 (8 = 0), with the locus order centromere-MUC1-SPTAl-FcyRII-AT3-telomere.

Multipoint linkage analysis excluded the CMT locus from chromosome 17 markers in this family.