Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.

ABSTRACT:

Background

Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It is still challenging to make a definite diagnosis for affected fetuses with TCS only depending on the ultrasound screening. Genetic tests can contribute to the accurate diagnosis for those prenatal cases.

Methods

Targeted exome sequencing was performed in a fetus of a Chinese family, who presenting an abnormal facial appearance by prenatal 2D and 3D ultrasound screening, including micrognathia, nasal bridge pit, and abnormal auricle. The result was validated with multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR (qPCR).

Results

A novel 2-6 exons deletion of TCOF1 gene was

SUBMITTER: Liu J 

PROVIDER: S-EPMC7434750 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature