Abstract

3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter of which is novel, who exhibited a good body height response to growth hormone treatment. These results expand our knowledge of phenotype–genotype correlations in 3M syndrome, including correlations relevant to growth hormone response.

Details

Title
A novel CUL7 mutation in a Japanese patient with 3M syndrome
Author
Takatani, Tomozumi 1 ; Shiohama, Tadashi 1   VIAFID ORCID Logo  ; Takatani, Rieko 1 ; Shimojo, Naoki 1 

1  Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan 
Pages
1-4
Publication year
2018
Publication date
Oct 2018
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-018-0029-3
ProQuest document ID
2124454447
Copyright
© 2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.