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KMID : 1100720130330020150
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Annals of Laboratory Medicine
2013 Volume.33 No. 2 p.150 ~ p.152
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Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement
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Seo Soo-Hyun
Park Seung-Man
Cho Sung-Im
Park Sung-Sup
Seong Moon-Woo
Park Mi-Jung
Kim Shin-Hye
Kim Ok-Hwa
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Abstract
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Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little fingers. Hyperphalangy of the index and middle finger and shortening of the first metacarpal can also be observed. BDC is a rare genetic condition associated with the GDF5 gene, and this condition has not been confirmed by genetic analysis so far in the Korean population. Herein, we present a case of a 6-yr-old girl diagnosed with BDC confirmed by molecular genetic analysis. The patient presented with shortening of the second and third digits of both hands. Sequence analysis of the GDF5 gene was performed and the pathogenic mutation, c.1312C>T (p.Arg438Cys), was identified. Interestingly, this mutation was previously described in a patient who presented with the absence of the middle phalanges in the second through fifth toes. However, our patient showed no involvement of the feet. Considering intrafamilial and interfamilial variability, molecular analysis of isolated brachydactyly is warranted to elucidate the genetic origin and establish a diagnosis.
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KEYWORD
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Brachydactyly, GDF5 gene, Mutational analysis
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