A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia.
Genet Test Mol Biomarkers
; 23(7): 495-500, 2019 Jul.
Article
in En
| MEDLINE
| ID: mdl-31161946
ABSTRACT
Purpose:
Congenital aniridia is a kind of panocular disorder characterized by the absence of the iris in both eyes. Paired box 6 (PAX6) gene mutations have been identified as the most common cause of congenital aniridia. The aim of this study was to reveal the genetic defect in PAX6 in a Chinese family with congenital aniridia.Methods:
Twelve individuals from a three-generation Chinese family were recruited. All the family members underwent comprehensive ophthalmologic examinations. The entire coding region of PAX6 was amplified by polymerase chain reaction, followed by direct Sanger sequencing. Possible structural and functional changes of protein were predicted by bioinformatic analysis using SIFT and Polyohen-2.Results:
Among all the 12 members, four were clinically diagnosed with congenital aniridia. A novel heterozygous mutation c.275G>A (p.R92Q) in exon 6 of PAX6 was identified in all the patients, but not in the unaffected individuals or 1186 healthy subjects. This missense mutation is a G-A transition, converting Arginine (R) to Glutamine (Q) at amino acid 92. The substitution of amino acid in the PAX6 protein changed the local charge density and was predicted to damage the normal protein function.Conclusions:
Our study identified a novel mutation of PAX6 responsible for congenital aniridia in a Chinese family, which may contribute to understanding the molecular basis and clinical diagnosis of congenital aniridia.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Aniridia
/
Mutation, Missense
/
PAX6 Transcription Factor
Type of study:
Prognostic_studies
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Asia
Language:
En
Journal:
Genet Test Mol Biomarkers
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA
Year:
2019
Document type:
Article
Affiliation country:
China
Publication country:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA