Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
Open Access
- 4 February 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in Human Genome Variation
- Vol. 7 (1), 1-3
- https://doi.org/10.1038/s41439-020-0090-6
Abstract
3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708del and c.1989_1999del of CUL7. Skeletal features were consistent with 3M syndrome in the early neonatal period but became less obvious by 2 years of age.Keywords
Funding Information
- Japan Agency for Medical Research and Development (18ek0109301)
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