A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.

ABSTRACT:

Background

Robinow syndrome is a rare genetic disorder that affects the development of multiple systems. Due to its low prevalence and diversity of phenotypic presentation it has been challenging to definitively characterize features of Robinow syndrome.

Methods

We performed DNA extraction, whole-exome sequencing analysis, and mutation analysis of DVL1 to obtain genetic data on the patient. We subsequently analyzed the patient's clinical and genetic data.

Results

The proband was a 3-month-old female infant who suffered from significant global developmental delay and metabolic disorder. The main clinical manifestations included facial dysmorphisms, bilateral dislocation of the hip joint, and hearing impairment. Whole-exome sequencing of the patient's DNA revealed a het

SUBMITTER: Hu R 

PROVIDER: S-EPMC8922971 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature