Novel <i>SSR4</i> gene splice variant leads to congenital disorder of glycosylation, type Iy.

ABSTRACT:

Background

Congenital disorders of glycosylation (CDG) are a group of multi-systemic genetic disorders. Over 100 monogenic human diseases were known related with defects in glycosylation process. Defects of SSR4 gene lead to a rare X linked pattern of CDG which has been rarely reported.

Method

We reported a Chinese boy with developmental delay, microcephaly, and epileptic seizures. Whole exome sequencing and Sanger sequencing were performed in the family.

Result

A novel maternal splice variant c.351+1del in SSR4 gene was identified by trio-exome sequencing, and confirmed by Sanger sequencing. The functional effect of the variant was further investigated by minigene. The minigene results showed three abnormal splice forms: (1) 1 bp deletion in 3' end of e

SUBMITTER: Li N 

PROVIDER: S-EPMC12592166 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature