共同性外斜视家系和散发患者突变基因分析

doi:10.3760/cma.j.cn115909-20200803-00321

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Abstract Objective: To report a novel mutation of the PAX3 gene in a family with concomitant exotropia. Methods: A concomitant exotropia pedigree with 6 persons over 3 generations included 2 persons from the family in this experimental study, 180 sporadic patients and 150 normal controls. The genomic DNA was extracted. Using the Illumina Hiseq 4000 high-throughput sequencing system, exome sequencing was performed, followed by a bioinformatics analysis of the sequencing results to screen out possible pathogenic candidate genes. Then the primers were designed for the selected candidate genes and Sanger sequencing was carried out to verify the mutation. Results: The mutation of the PAX3 gene c.G434T (p.R145L) was detected by exome sequencing. Both patients in the family were confirmed to carry the PAX3 c.434G>T heterozygous missense mutation by using Sanger generation sequencing. The c.434G>T heterozygous mutation of the PAX3 gene was co-segregated from concomitant exotropia in the family. The mutation was detected in 27 of 180 sporadic patients and no c.434G>T mutation in the PAX3 gene was found in 150 normal individuals who were not related to the family. Conclusions: The PAX3 gene c.434G>T (p.R145L) heterozygous missense mutation may be the pathogenic gene of concomitant exotropia.

Key words： concomitant extropia whole-exome sequencing pathogenic gene PAX3

Received: 03 August 2020

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Corresponding Authors: Guixiang Liu, Department of Ophthalmology, the Affiliated Hospital of Qingdao University, Qingdao 266003, China (Email: liugx7@126.com)

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https://www.cjoovs.com/EN/10.3760/cma.j.cn115909-20200803-00321 OR https://www.cjoovs.com/EN/Y2021/V23/I1/13

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