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A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

Title
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14
Authors
Choi B.-O.Hee Kang S.Hyun Y.S.Kanwal S.Park S.W.Koo H.Kim S.-B.Choi Y.-C.Yoo J.H.Kim J.-W.Park K.D.Choi K.-G.Ja Kim S.Zuchner S.Chung K.W.
Ewha Authors
최경규구혜수박기덕유정현최병옥
SCOPUS Author ID
최경규scopus; 구혜수scopus; 박기덕scopus; 유정현scopus
Issue Date
2011
Journal Title
Human Mutation
ISSN
1059-7794JCR Link
Citation
vol. 32, no. 6, pp. 669 - 677
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Both peripheral neuropathy and distal myopathy are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss was diagnosed in a large autosomal dominant Korean family. A high density single nucleotide polymorphism (SNP)-based linkage study mapped the underlying gene to a region on chromosome 19q13.3. The maximum multipoint LOD score was 3.794. Sequencing of 34 positional candidate genes in the segregating haplotype revealed a novel c.2822G>T (p.Arg941Leu) mutation in the gene MYH14, which encodes the nonmuscle myosin heavy chain 14. Clinically we observed a sequential pattern of the onset of muscle weakness starting from the anterior to the posterior leg muscle compartments followed by involvement of intrinsic hand and proximal muscles. The hearing loss and hoarseness followed the onset of distal muscle weakness. Histopathologic and electrodiagnostic studies revealed both chronic neuropathic and myopathic features in the affected patients. Although mutations in MYH14 have been shown to cause nonsyndromic autosomal dominant hearing loss (DFNA4), the peripheral neuropathy, myopathy, and hoarseness have not been associated with MYH14. Therefore, we suggest that the identified mutation in MYH14 significantly expands the phenotypic spectrum of this gene. © 2011 Wiley-Liss, Inc.
DOI
10.1002/humu.21488
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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