Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhauser Syndrome.

ABSTRACT: Background: Boucher-Neuhäuser syndrome (BNS, MIM 215470) is a rare autosomal recessive syndrome caused by mutations in the PNPLA6 gene. Few BNS cases have been reported for functional validation at the RNA level. Herein, we report on the family of a 17-year-old girl with clinical characteristics of BNS, genetic validation, and a systematic review of PNPLA6 variants related to BNS. Methods: Clinical data and blood samples were collected from the patient and their parents, and whole-exome sequencing was performed and confirmed by Sanger sequencing. RNA-sequencing (RNA-Seq) and quantitative RT-PCR (qRT-PCR) were performed, and the three-dimensional protein structures of the variants were predicted. Results: We report a 17-year-old female with progressive nig

SUBMITTER: He J 

PROVIDER: S-EPMC8859865 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature