Premium
Exome sequencing is an efficient tool for genetic screening of Charcot–Marie–Tooth Disease
Author(s) -
Choi ByungOk,
Koo Soo Kyung,
Park MiHyun,
Rhee Hwanseok,
Yang SongJu,
Choi KyoungGyu,
Jung SungChul,
Kim Han Su,
Hyun Young Se,
Nakhro Khriezhanuo,
Lee Hye Jin,
Woo HaeMi,
Chung Ki Wha
Publication year - 2012
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22143
Subject(s) - exome sequencing , biology , genetics , exome , genetic heterogeneity , disease , gene duplication , molecular diagnostics , genetic analysis , phenotype , genetic testing , dna sequencing , gene , medicine , pathology
Charcot–Marie–Tooth disease (CMT) is one of the most common inherited neuropathies and is a genetically and clinically heterogeneous disorder with variable inheritance modes. As several molecules have been reported to have therapeutic effects on CMT, depending on the underlying genetic causes, exact genetic diagnostics have become very important for executing personalized therapy. Whole‐exome sequencing has recently been introduced as an available method to identify rare or novel genetic defects from genetic disorders. Particularly, CMT is a model disease to apply exome sequencing because more than 50 genes (loci) are involved in its development with weak genotype–phenotype correlation. This study performed the exome sequencing in 25 unrelated CMT patients who revealed neither 17p12 duplication/deletion nor several major CMT genes. This study identified eight causative heterozygous mutations (32%). This detection rate seems rather high because each sample was tested before the study for major genetic causes. Therefore, this study suggests that the exome sequencing can be a highly exact, rapid, and economical molecular diagnostic tool for CMT patients who are tested for major genetic causes. Hum Mutat 33:1610–1615, 2012. © 2012 Wiley Periodicals, Inc.