지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
- 수록면
- 150 - 152 (3page)
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초록· 키워드
오류제보하기
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.
목차
등록된 정보가 없습니다.
참고문헌 (11)
참고문헌 신청
Baek GH / 1997 / The relative incidence of congenital anomalies of the hand / J Korean Orthop Assoc 32 : 796 ~ 801
Byrnes AM / 2010 / Mutations in GDF5 presenting as semidominant brachydactyly A1 / Hum Mutat 31 : 1155 ~ 1162
Dawson K / 2006 / GDF5 is a second locus for multiple-synostosis syndrome / Am J Hum Genet 78 : 708 ~ 712
Everman DB / 2002 / The mutational spectrum of brachydactyly type C / Am J Med Genet 112 : 291 ~ 296
Holder-Espinasse M / 2004 / Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP
Byrnes AM / 2010 / Mutations in GDF5 presenting as semidominant brachydactyly A1 / Hum Mutat 31 : 1155 ~ 1162
Dawson K / 2006 / GDF5 is a second locus for multiple-synostosis syndrome / Am J Hum Genet 78 : 708 ~ 712
Everman DB / 2002 / The mutational spectrum of brachydactyly type C / Am J Med Genet 112 : 291 ~ 296
Holder-Espinasse M / 2004 / Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP
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