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.
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Authors | Toshiki Takenouchi, Yohei Matsuzaki, Kazuka Yamamoto, Keisuke Kosaki, Chiharu Torii, Takao Takahashi, Kenjiro Kosaki |
Journal | European journal of medical genetics
(Eur J Med Genet)
2014 May-Jun
Vol. 57
Issue 6
Pg. 298-301
ISSN: 1878-0849 [Electronic] Netherlands |
PMID | 24704791
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2014. Published by Elsevier Masson SAS. |
Chemical References |
- Collagen Type II
- SOX9 Transcription Factor
- SOX9 protein, human
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Topics |
- Binding Sites
(genetics)
- Child, Preschool
- Collagen Diseases
(diagnosis, genetics)
- Collagen Type II
(genetics)
- DNA Mutational Analysis
- Developmental Disabilities
(diagnosis, genetics)
- Diagnosis, Differential
- Female
- Humans
- Mutation, Missense
- Protein Multimerization
- SOX9 Transcription Factor
(chemistry, genetics)
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