Abstract
The classification of bone dysplasia has relied on a clinical/radiographic interpretation and the identification of specific genetic alterations. The clinical presentation of the SOX9 mutation and type 2 collagen disorders overlap with the Pierre-Robin sequence and talipes equinovarus, but the former is often accompanied by the bent long bones. In its milder form, the SOX9 mutation is not necessarily associated with the bent long bones. Here, we report a patient with the Pierre-Robin sequence and talipes equinovarus who did not exhibit either bent long bones or scapular hypoplasia; thus, this patient was instead classified as having a type 2 collagen disorder. Despite this phenotypic presentation, the proposita was found to have a de novo SOX9 mutation. The peculiar location of the mutation within the dimerization domain might account for the relatively mild phenotypic effect of the SOX9 mutation to a degree that is compatible with a clinical diagnosis of type 2 collagen disorder, except for a developmental delay. We concluded that mutations in SOX9 can mimic a type 2 collagen disorder-like phenotype.
| Original language | English |
|---|---|
| Pages (from-to) | 298-301 |
| Number of pages | 4 |
| Journal | European Journal of Medical Genetics |
| Volume | 57 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - 2014 |
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Keywords
- Campomelic dysplasia
- SOX9
- Type 2 collagen disorders
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
- Medicine(all)
Cite this
SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype. / Takenouchi, Toshiki; Matsuzaki, Yohei; Yamamoto, Kazuka; Kosaki, Keisuke; Torii, Chiharu; Takahashi, Takao; Kosaki, Kenjiro.
In: European Journal of Medical Genetics, Vol. 57, No. 6, 2014, p. 298-301.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype
AU - Takenouchi, Toshiki
AU - Matsuzaki, Yohei
AU - Yamamoto, Kazuka
AU - Kosaki, Keisuke
AU - Torii, Chiharu
AU - Takahashi, Takao
AU - Kosaki, Kenjiro
PY - 2014
Y1 - 2014
N2 - The classification of bone dysplasia has relied on a clinical/radiographic interpretation and the identification of specific genetic alterations. The clinical presentation of the SOX9 mutation and type 2 collagen disorders overlap with the Pierre-Robin sequence and talipes equinovarus, but the former is often accompanied by the bent long bones. In its milder form, the SOX9 mutation is not necessarily associated with the bent long bones. Here, we report a patient with the Pierre-Robin sequence and talipes equinovarus who did not exhibit either bent long bones or scapular hypoplasia; thus, this patient was instead classified as having a type 2 collagen disorder. Despite this phenotypic presentation, the proposita was found to have a de novo SOX9 mutation. The peculiar location of the mutation within the dimerization domain might account for the relatively mild phenotypic effect of the SOX9 mutation to a degree that is compatible with a clinical diagnosis of type 2 collagen disorder, except for a developmental delay. We concluded that mutations in SOX9 can mimic a type 2 collagen disorder-like phenotype.
AB - The classification of bone dysplasia has relied on a clinical/radiographic interpretation and the identification of specific genetic alterations. The clinical presentation of the SOX9 mutation and type 2 collagen disorders overlap with the Pierre-Robin sequence and talipes equinovarus, but the former is often accompanied by the bent long bones. In its milder form, the SOX9 mutation is not necessarily associated with the bent long bones. Here, we report a patient with the Pierre-Robin sequence and talipes equinovarus who did not exhibit either bent long bones or scapular hypoplasia; thus, this patient was instead classified as having a type 2 collagen disorder. Despite this phenotypic presentation, the proposita was found to have a de novo SOX9 mutation. The peculiar location of the mutation within the dimerization domain might account for the relatively mild phenotypic effect of the SOX9 mutation to a degree that is compatible with a clinical diagnosis of type 2 collagen disorder, except for a developmental delay. We concluded that mutations in SOX9 can mimic a type 2 collagen disorder-like phenotype.
KW - Campomelic dysplasia
KW - SOX9
KW - Type 2 collagen disorders
UR - http://www.scopus.com/inward/record.url?scp=84901004586&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84901004586&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2014.03.012
DO - 10.1016/j.ejmg.2014.03.012
M3 - Article
C2 - 24704791
AN - SCOPUS:84901004586
VL - 57
SP - 298
EP - 301
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 6
ER -