Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement

  • Seo, Soo Hyun (Department of Laboratory Medicine, Seoul National University Hospital) ;
  • Park, Mi Jung (Department of Pediatrics, Sanggye Paik Hospital, Inje University College of Medicine) ;
  • Kim, Shin-Hye (Department of Pediatrics, Sanggye Paik Hospital, Inje University College of Medicine) ;
  • Kim, Ok-Hwa (Department of Radiology, Ajou University Hospital) ;
  • Park, Seungman (Department of Laboratory Medicine, Seoul National University Hospital) ;
  • Cho, Sung Im (Department of Laboratory Medicine, Seoul National University Hospital) ;
  • Park, Sung Sup (Department of Laboratory Medicine, Seoul National University Hospital) ;
  • Seong, Moon-Woo (Department of Laboratory Medicine, Seoul National University Hospital)
  • Published : 2013.03.02
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Abstract

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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References

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