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Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
- Source :
-
Neuromuscular disorders : NMD [Neuromuscul Disord] 2008 Jun; Vol. 18 (6), pp. 483-92. Date of Electronic Publication: 2008 Jun 03. - Publication Year :
- 2008
-
Abstract
- Charcot-Marie-Tooth polyneuropathies (CMT) are clinically and genetically heterogeneous. We describe a French-Canadian cluster of 17 recessive CMT cases belonging to 10 families with variable early-onset CMT and scoliosis. The patients demonstrate great intra- and inter-familial variability. Linkage analysis confirmed that all families are linked to CMT4C locus on chromosome 5q32 (multipoint LOD score of 9.06). Haplotype analysis suggests that two SH3TC2 mutations are present in this cohort. The majority of carrier chromosomes, 26 of 34 (76%), carry the c.2860C-->T mutation. Despite extensive sequencing, the other mutation is not yet uncovered. This study demonstrates that the clinical variability observed in CMT4C is due to other factors than the nature of the mutation and that further work is needed to better define the SH3TC2 gene to ensure the identification of all CMT4C mutations.
- Subjects :
- Adolescent
Adult
Aged
Aged, 80 and over
Canada epidemiology
Canada ethnology
Charcot-Marie-Tooth Disease epidemiology
Charcot-Marie-Tooth Disease pathology
Child
Chromosomes, Human, Pair 5
Cluster Analysis
Family Health
Female
Humans
Intracellular Signaling Peptides and Proteins
Male
Middle Aged
White People
Charcot-Marie-Tooth Disease genetics
Genetic Predisposition to Disease
Mutation genetics
Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0960-8966
- Volume :
- 18
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Neuromuscular disorders : NMD
- Publication Type :
- Academic Journal
- Accession number :
- 18511281
- Full Text :
- https://doi.org/10.1016/j.nmd.2008.04.001