Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

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Abstract

Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis of the diaphyses of long bones1. We recently assigned the CED locus to an interval between D19S422 and D19S606 at chromosome 19q13.1–q13.3 (ref. 2), which two other groups confirmed3,4. As the human transforming growth factor-β1 gene (TGFB1) is located within this interval5, we considered it a candidate gene for CED.

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Figure 1: Three mutations in patients with CED.

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Acknowledgements

We thank our patients for their participation. This study was supported by Grants-in-Aid (11470507 for N.N.; 11672252 for K.Y.; 10770489 for H.T.) from Ministry of Education, Science, Sports and Culture, and from Ministry of Health and Welfare of Japan.

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Correspondence to Akira Kinoshita or Koh-ichiro Yoshiura.

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