A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.

ABSTRACT:

Background

Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder.

Methods

To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole-exome sequencing (WES), Sanger sequencing, reverse transcription (RT)-PCR, and the Minigene assay were performed.

Results

The probands, an 11-year-old male and his cousin exhibited typical clinical manifestations of TCS including conductive hearing loss, downward slanting palpebral fissures, and mandibular hypoplasia. Computed tomography revealed bilateral fusion of the anterior and posterior stapedial crura and malformation of the long crura of the incus. WES of both patients revealed a novel heterozygous intronic vari

SUBMITTER: Sun H 

PROVIDER: S-EPMC10946134 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature