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SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

Title
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
Authors
Nakhro K.Park J.-M.Hong Y.B.Park J.H.Nam S.H.Yoon B.R.Yoo J.H.Koo H.Jung S.-C.Kim H.-L.Kim J.Y.Choi K.-G.Choi B.-O.Chung K.W.
Ewha Authors
김형래최경규구혜수유정현최병옥정성철
SCOPUS Author ID
김형래scopus; 최경규scopus; 구혜수scopus; 유정현scopus; 정성철scopus
Issue Date
2013
Journal Title
Neurology
ISSN
0028-3878JCR Link
Citation
vol. 81, no. 2, pp. 165 - 173
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Objective: To identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie- Tooth disease type 4B (CMT4B) family. Methods: We enrolled 14 members of a Korean family in which 3 individuals had demyelinating CMT4B phenotype and obtained distal sural nerve biopsies from all affected participants. We conducted exome sequencing on 6 samples (3 affected and 3 unaffected individuals). Results: One pair of heterozygous missense mutations in the SET binding factor 1 (SBF1) gene (22q13.33), also called MTMR5, was identified as the underlying cause of the CMT4B family illness. Clinical phenotypes of affected study participants with CMT4B were similar, to some extent, to patients with CMT4B1 and CMT4B2.We found a similar loss of large myelinated fibers and focally folded myelin sheaths in our patients, but the actual number of myelinated fibers was different from CMT4B1 and CMT4B2. Conclusions: We suggest that the compound heterozygous mutations in SBF1 are the underlying causes of a novel CMT4B subtype, designated as CMT4B3. We believe that this study will lead to mechanistic studies to discover the function of SBF1 and to the development of molecular diagnostics for CMT disease. © 2013 American Academy of Neurology.
DOI
10.1212/WNL.0b013e31829a3421
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의학전문대학원 > 의학과 > Journal papers
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