Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.

ABSTRACT:

Background

3-M syndrome is a rare autosomal recessive disorder characterized by primordial growth retardation, large head circumference, characteristic facial features, and mild skeletal changes, which is associated with the exclusive variants in three genes, namely CUL7, OBSL1, and CCDC8. Only a few 3-M syndrome patients have been reported in Chinese population.

Methods

Children with unexplained severe short stature, facial dysmorphism, and normal intelligence in two Chinese families and their relatives were enrolled. Trio-whole-exome sequencing (trio-WES) and pathogenicity prediction analysis were conducted on the recruited patients. A conservative analysis of the mutant amino acid sequences and function prediction analysis of the wild-type (WT) and mutant CUL7 protein wer

SUBMITTER: Hu L 

PROVIDER: S-EPMC7370744 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature