Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene.

ABSTRACT:

Background

Craniofacial microsomia (CFM) is a common congenital malformation with unknown pathogenesis. Although few cases have been reported, it is suggested that variants of the SF3B2 gene may lead to CFM. We herein report the case of a neonate with CFM exhibiting rare features of airway obstruction.

Methods

Trio whole-exome sequencing and Sanger validation were performed on the proband and her parents. Candidate gene mutations were analyzed using the Genome Aggregation Database (gnomAD) for normal frequency distributions. The Human Splicing Finder (HSF) and Rare Disease Data Center (RDDC) RNA splicer algorithms predicted the variant's harmfulness, verified by a Minigene assay.

Results

The proband had a heterozygous SF3B2 variant, NM_006842.3:c.777+1G>A. The patient

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC10724505 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature