title: Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy.
abstract: 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.
authors.affiliation: Department of Biochemistry, University of Antwerp, Wilrijk, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Raeymaekers
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: L
authors.initials: L
authors.lastname: Swerts
authors.forename: L
authors.initials: L
authors.lastname: Muylle
authors.forename: J
authors.initials: J
authors.lastname: Gheuens
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: A
authors.initials: A
authors.lastname: Vandenberghe
mesh_terms: 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
chemical_list: D001789:Blood Group Antigens; D004375:Duffy Blood-Group System