Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.

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.

SUBMITTER: Takizaki N 

PROVIDER: S-EPMC7000808 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature