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Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).
Am J Hum Genet. 1989 Dec; 45(6):953-8.AJ

Abstract

Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth (CMT) disease is an autosomal dominant peripheral neuropathy. In some CMT families linkage has been reported with either the Duffy blood group or the APOA2 gene, both located on chromosome 1q. More recently, linkage has been found in six CMT families with two chromosome 17p markers. We extensively analyzed a multi-generation Charcot-Marie-Tooth family by using molecular genetic techniques in order to localize the CMT gene defect. First, we constructed a continuous linkage group of 11 chromosome 1 markers and definitely excluded chromosome 1 as the site of mutation. Second, we analyzed the family for linkage with chromosome 17. The two-point lod scores obtained with D17S58 and D17S71 proved that this Charcot-Marie-Tooth family is linked to chromosome 17. Moreover, multipoint linkage results indicated that the mutation is most likely located on the chromosome 17p arm, distal of D17S71.

Authors+Show Affiliations

Department of Biochemistry, University of Antwerp, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

2589322

Citation

Raeymaekers, P, et al. "Localization of the Mutation in an Extended Family With Charcot-Marie-Tooth Neuropathy (HMSN I)." American Journal of Human Genetics, vol. 45, no. 6, 1989, pp. 953-8.
Raeymaekers P, Timmerman V, De Jonghe P, et al. Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I). Am J Hum Genet. 1989;45(6):953-8.
Raeymaekers, P., Timmerman, V., De Jonghe, P., Swerts, L., Gheuens, J., Martin, J. J., Muylle, L., De Winter, G., Vandenberghe, A., & Van Broeckhoven, C. (1989). Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I). American Journal of Human Genetics, 45(6), 953-8.
Raeymaekers P, et al. Localization of the Mutation in an Extended Family With Charcot-Marie-Tooth Neuropathy (HMSN I). Am J Hum Genet. 1989;45(6):953-8. PubMed PMID: 2589322.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I). AU - Raeymaekers,P, AU - Timmerman,V, AU - De Jonghe,P, AU - Swerts,L, AU - Gheuens,J, AU - Martin,J J, AU - Muylle,L, AU - De Winter,G, AU - Vandenberghe,A, AU - Van Broeckhoven,C, PY - 1989/12/1/pubmed PY - 1989/12/1/medline PY - 1989/12/1/entrez SP - 953 EP - 8 JF - American journal of human genetics JO - Am J Hum Genet VL - 45 IS - 6 N2 - Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth (CMT) disease is an autosomal dominant peripheral neuropathy. In some CMT families linkage has been reported with either the Duffy blood group or the APOA2 gene, both located on chromosome 1q. More recently, linkage has been found in six CMT families with two chromosome 17p markers. We extensively analyzed a multi-generation Charcot-Marie-Tooth family by using molecular genetic techniques in order to localize the CMT gene defect. First, we constructed a continuous linkage group of 11 chromosome 1 markers and definitely excluded chromosome 1 as the site of mutation. Second, we analyzed the family for linkage with chromosome 17. The two-point lod scores obtained with D17S58 and D17S71 proved that this Charcot-Marie-Tooth family is linked to chromosome 17. Moreover, multipoint linkage results indicated that the mutation is most likely located on the chromosome 17p arm, distal of D17S71. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/2589322/Localization_of_the_mutation_in_an_extended_family_with_Charcot_Marie_Tooth_neuropathy__HMSN_I__ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/2589322/ DB - PRIME DP - Unbound Medicine ER -