NDLI: Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.

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Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.

Content Provider	Europe PMC
Author	Seo, Soo Hyun Park, Mi Jung Kim, Shin-Hye Kim, Ok-Hwa Park, Seungman Cho, Sung Im Park, Sung Sup Seong, Moon-Woo
Copyright Year	2013
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.
ISSN	22343806
Journal	Annals of Laboratory Medicine
Volume Number	33
PubMed Central reference number	PMC3589643
Issue Number	2
PubMed reference number	23483675
e-ISSN	22343814
DOI	10.3343/alm.2013.33.2.150
Language	English
Publisher	The Korean Society for Laboratory Medicine
Publisher Date	2013-02-21
Access Restriction	Open
Rights License	This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. © The Korean Society for Laboratory Medicine.
Subject Keyword	Brachydactyly GDF5 gene Mutational analysis
Content Type	Text
Resource Type	Article
Subject	Biochemistry (medical) Clinical Biochemistry

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