Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy.
We report a large Belgian family with Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy type I (HMSN-I). The pedigree consists of 5 generations with 350 family members comprising 42 patients. The disease is transmitted according to an autosomal dominant inheritance pattern. Several HMSN-I families have been reported to be closely linked to the Duffy blood group marker on chromosome 1. These families were designated HMSN-Ib families, opposed to the HMSN-Ia families which do not show evidence for such a linkage. Therefore we examined our family for the Duffy linkage relationship. We found no evidence for a strong linkage of the disease to the Duffy blood group locus, indicating that this family is of genetic subtype Ia.
Raeymaekers
P
P
Department of Biochemistry, University of Antwerp, Wilrijk, Belgium.
De Jonghe
P
P
Swerts
L
L
Muylle
L
L
Gheuens
J
J
Martin
J J
JJ
Van Broeckhoven
C
C
Vandenberghe
A
A
D001789:Blood Group Antigens; D002607:Charcot-Marie-Tooth Disease / Q000097:blood / Q000235:genetics*; D004375:Duffy Blood-Group System; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree
D001789:Blood Group Antigens; D004375:Duffy Blood-Group System