title: Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family.
abstract: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral motor and sensory neuropathies characterized by distal muscle weakness atrophy predominantly in the lower extremities, diminished or absent deep tendon reflexes, distal sensory loss and skeletal deformities. Mode of inheritance could be either autosomal dominant, autosomal recessive, or X-linked. The autosomal-recessive subgroup of CMT (AR-CMT) neuropathies is heterogeneous as well. To date, nine demyelinating loci have been implicated in CMT4 and seven genes have been identified. It has been screened in this study for the presence of mutations in the coding region of GDAP1 and genetic linkage analyses of CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F loci were tested in a Turkish family presenting recessively inherited form of CMT disease characterized by severe motor weakness. We did not find any mutations in GDAP1 and genetic linkage excluded for the six demyelinating genes loci (CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F). Our findings indicate that another locus may be associated with AR-CMT disease.
authors.affiliation: Department of Medical Biology, Suleyman Demirel University, Faculty of Medicine, Isparta, Turkey. nilufersahin@yahoo.com
authors.forename: Nilufer
authors.initials: N
authors.lastname: Sahin-Calapoglu
authors.forename: Mustafa
authors.initials: M
authors.lastname: Soyoz
authors.forename: Mustafa
authors.initials: M
authors.lastname: Calapoglu
authors.forename: Nurten
authors.initials: N
authors.lastname: Ozcelik
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D005190:Family; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics; D009460:Neurologic Examination; D010375:Pedigree; D014421:Turkey; D055815:Young Adult
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins; D004247:DNA