Description: When patients present with night blindness, impaired vision and hypogonadotropic hypogonadism, the possibility of Boucher-Neuhauser syndrom should be considered. And gene sequencing is the main diagnostic method at present. Here, novel compound heterozygous variants of PNPLA6 was identified in a BNS patient with functional validation at RNA level. The variant (NM_006702.4:c.2241del) was novel and likely pathogenic, which expanded the mutation spectrum of PNPLA6.

Data type: Transcriptome or Gene expression

Sample scope: Monoisolate

Release date: 2022-02-28

Last updated: 2022-01-04

Data size: 18.02GB