title: Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
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.
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
authors.forename: Soo Hyun
authors.initials: SH
authors.lastname: Seo
authors.forename: Mi Jung
authors.initials: MJ
authors.lastname: Park
authors.forename: Shin-Hye
authors.initials: SH
authors.lastname: Kim
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.forename: Seungman
authors.initials: S
authors.lastname: Park
authors.forename: Sung Im
authors.initials: SI
authors.lastname: Cho
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Moon-Woo
authors.initials: MW
authors.lastname: Seong
mesh_terms: D044466:Asian People / Q000235:genetics*; D059327:Brachydactyly / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005385:Fingers / Q000033:anatomy & histology; D055428:Growth Differentiation Factor 5 / Q000235:genetics*; D006801:Humans; D009154:Mutation; D056910:Republic of Korea
chemical_list: D055428:Growth Differentiation Factor 5
keywords: Brachydactyly; GDF5 gene; Mutational analysis