The clinical and genetic findings in a Chinese family with Axenfeld-Rieger syndrome.

ABSTRACT:

Objecive

To describe the clinical and genetic findings of an Axenfeld-Rieger syndrome (ARS) family with a new PITX2 splicing mutation.

Methods

A Chinese ARS family with five affected individuals was recruited. Exome sequencing was performed on the proband and the variant (C.253-9C > A) in PITX2 gene was detected as a pathogenic mutation. Sanger sequencing was performed for verification and cosegregation analysis. Real-time polymerase chain reaction (RT- PCR) and Western blotting were performed to verify the expression of the pathogenic gene.

Results

All the patients showed abnormalities in the anterior segment of both eyes including posterior embryotoxon, corectopia, iris dysplasia, and iridocorneal tissue adhesions. In addition, they all presente

SUBMITTER: Cheng L 

PROVIDER: S-EPMC9813731 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature