A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome.

ABSTRACT:

Purpose

To identify the genetic cause in a four-generation Chinese family with Axenfeld-Rieger syndrome (ARS).

Methods

The family members received clinical examinations of the eye, tooth, periumbilical skin, and heart. Sanger sequencing and whole-exome sequencing (WES) were performed to screen potential mutations. The genomic deletion region around the PITX2 gene was estimated from single nucleotide polymorphism (SNP) data from WES and then confirmed with "quantitative PCR (qPCR) using a set of primers. The DNA breakpoint was further identified with long-range PCR and Sanger sequencing.

Results

Symptoms including anterior segment dysplasia of the eye (iris dysplasia, multiple pupils, and posterior embryotoxon), dental dysplasia, and periumbilical skin redundanc

SUBMITTER: Qin Y 

PROVIDER: S-EPMC7553719 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature