PDF(Pubmed)
Abstract：
BACKGROUND: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic disease with diverse ocular malformations. This study aimed to investigate the disease-causing gene in members of a BPES pedigree presenting with the rare features of anisometropia, unilateral pathologic myopia (PM), and congenital cataracts.
METHODS: The related BPES patients underwent a comprehensive ocular examination. Next, whole-exome sequencing (WES) was performed to screen for the disease-causing genetic variants. A step-wise variant filtering was performed to select candidate variants combined with the annotation of the variant\'s pathogenicity, which was assessed using several bioinformatic approaches. Co-segregation analysis and Sanger sequencing were then conducted to validate the candidate variant.
RESULTS: The variant c.672_701dup in FOXL2 was identified to be the disease-causing variant in this rare BPES family. Combined with clinical manifestations, the two affected individuals were diagnosed with type II BPES.
CONCLUSIONS: This study uncovered the variant c.672_701dup in FOXL2 as a disease causal variant in a rare-presenting BPES family with anisometropia, unilateral pathogenic myopia, and/or congenital cataracts, thus expanding the phenotypic spectrum of FOXL2.
METHODS: The related BPES patients underwent a comprehensive ocular examination. Next, whole-exome sequencing (WES) was performed to screen for the disease-causing genetic variants. A step-wise variant filtering was performed to select candidate variants combined with the annotation of the variant\'s pathogenicity, which was assessed using several bioinformatic approaches. Co-segregation analysis and Sanger sequencing were then conducted to validate the candidate variant.
RESULTS: The variant c.672_701dup in FOXL2 was identified to be the disease-causing variant in this rare BPES family. Combined with clinical manifestations, the two affected individuals were diagnosed with type II BPES.
CONCLUSIONS: This study uncovered the variant c.672_701dup in FOXL2 as a disease causal variant in a rare-presenting BPES family with anisometropia, unilateral pathogenic myopia, and/or congenital cataracts, thus expanding the phenotypic spectrum of FOXL2.
摘要：
背景：咽炎，上睑下垂,和内chan倒肌综合征（BPES）是一种罕见的遗传性疾病，具有多种眼部畸形。本研究旨在探讨具有屈光参差罕见特征的BPES家系成员的致病基因，单侧病理性近视(PM),和先天性白内障。
方法：对相关的BPES患者进行全面的眼部检查。接下来,进行全外显子组测序(WES)以筛选致病遗传变异.进行逐步变体过滤以选择候选变体，并结合变体致病性的注释，这是使用几种生物信息学方法进行评估的。然后进行共分离分析和Sanger测序以验证候选变体。
结果：FOXL2中的变异c.672_701dup被鉴定为这个罕见的BPES家族中的致病变异。结合临床表现，两名受影响的个体被诊断为II型BPES.
结论：这项研究发现FOXL2中的变异c.672_701dup是罕见的BPES家族中的疾病因果变异，单侧致病性近视，和/或先天性白内障，从而扩大了FOXL2的表型谱。
方法：对相关的BPES患者进行全面的眼部检查。接下来,进行全外显子组测序(WES)以筛选致病遗传变异.进行逐步变体过滤以选择候选变体，并结合变体致病性的注释，这是使用几种生物信息学方法进行评估的。然后进行共分离分析和Sanger测序以验证候选变体。
结果：FOXL2中的变异c.672_701dup被鉴定为这个罕见的BPES家族中的致病变异。结合临床表现，两名受影响的个体被诊断为II型BPES.
结论：这项研究发现FOXL2中的变异c.672_701dup是罕见的BPES家族中的疾病因果变异，单侧致病性近视，和/或先天性白内障，从而扩大了FOXL2的表型谱。
