Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.

ABSTRACT:

Background

Defects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs). FDs represent a group of rare and highly heterogeneous disease entities that encompass mandibulofacial dysostoses (MFDs) with normal extremities and acrofacial dysostoses (AFDs) with limb anomalies in addition to craniofacial defects.

Methods

We examined 11 families with variable clinical symptoms of FDs, in most of which only one member was affected. We applied two custom gene panels-first comprising 37 genes related to the genetic disorders of craniofacial development such as FDs (On-Demand AmpliSeq Thermo Fisher Scientific gene panel with two primer pools) and se

SUBMITTER: Bukowska-Olech E 

PROVIDER: S-EPMC7686794 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature