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Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D
M Nagamatsu1, R B Jenkins, D J Schaid
1Peripheral Neuropathy Research Center, Mayo Clinic and Mayo Foundation, Rochester, Minn 55905, USA.
Background:
Linkage analysis studies have identified 3 genetically different varieties of hereditary motor and sensory neuropathy type 2 (HMSN 2, also called Charcot-Marie-Tooth disease type 2, or CMT 2): HMSN 2A (linked to 1p35-p36), 2B (to 3q13-q22), and 2D (to 7p14). Hereditary motor and sensory neuropathy type 2C is characterized by diaphragmatic and vocal cord paresis; its disease locus has not been mapped.
Objective:
To determine whether the HMSN 2C phenotype, previously shown not to be linked to the HMSN 2A locus, is linked to the HMSN 2B or HMSN 2D loci.
Design:
Linkage analysis.
Setting And Patients:
Thirty-three subjects, including 12 affected individuals and 11 individuals at risk, in a large family with HMSN 2C.
Results:
Evidence was found against linkage of HMSN 2C phenotype to either the HMSN 2B or the 2D loci.
Conclusions:
HMSN 2C is genetically distinct from HMSN 2A, 2B, and 2D. We think that at least 4 genetically distinct varieties of autosomal dominant HMSN 2 exist.