POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

ABSTRACT:

Purpose

Treacher Collins syndrome (TCS) is a rare autosomal dominant mandibulofacial dysostosis, with a prevalence of 0.2-1/10,000. Features include bilateral and symmetrical malar and mandibular hypoplasia and facial abnormalities due to abnormal neural crest cell (NCC) migration and differentiation. To date, three genes have been identified: TCOF1, POLR1C, and POLR1D. Despite a large number of patients with a molecular diagnosis, some remain without a known genetic anomaly.

Methods

We performed exome sequencing for four individuals with TCS but who were negative for pathogenic variants in the known causative genes. The effect of the pathogenic variants was investigated in zebrafish.

Results

We identified three novel pathogenic variants in POLR1B. Knockdown of polr1b

SUBMITTER: Sanchez E 

PROVIDER: S-EPMC7056642 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature