通过阵列比较基因组杂交在患有睑裂狭小综合征且有明显平衡易位t(3;15)(q23;q25)的女孩中发现微缺失。
Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).
作者信息
González-González Cristina, García-Hoyos Maria, Hernaez Calzón Rosario, Arroyo Díaz Carolina, González Fanego Cristina, Lorda Sánchez Isabel, Sánchez-Escribano Fernando
机构信息
Department of Genetics, Megalab, Madrid, Spain.
出版信息
Ophthalmic Genet. 2012 Jun;33(2):107-10. doi: 10.3109/13816810.2011.634879. Epub 2011 Dec 15.
BACKGROUND
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal dominant congenital disorder. Mutations in FOXL2, a gene located at 3q23, have been shown to cause the syndrome. We report a girl with BPES with a "de novo" apparently balanced translocation between chromosomes 3 and 15: t(3;15)(q23;q25).
MATERIAL AND METHODS
Conventional cytogenetic and CGH array were performed.
RESULTS
The karyotype showed an apparently balanced translocation. Molecular studies by array-CGH did not show deletions in the FOXL2 gene; however, a novel 63.2 kb deletion involving a non-protein-coding gene (PISRT1) was found.
CONCLUSIONS
The novel deletion found could be involved in FOXL2 regulation and constitutes the smallest deletion described in a female with BPES. In cases of "de novo" apparently balanced translocation, only a 5-6% risk of phenotype alteration is described. Molecular studies can help to discover these alterations and provide insight for genetic counseling.
背景
睑裂狭小、上睑下垂及内眦赘皮综合征（BPES）是一种罕见的常染色体显性先天性疾病。位于3q23的FOXL2基因突变已被证实可导致该综合征。我们报告了一名患有BPES的女孩，其3号和15号染色体之间存在“新发”的明显平衡易位：t(3;15)(q23;q25)。
材料与方法
进行了常规细胞遗传学和比较基因组杂交（CGH）阵列分析。
结果
核型显示为明显的平衡易位。阵列CGH的分子研究未显示FOXL2基因缺失；然而，发现了一个涉及非蛋白质编码基因（PISRT1）的63.2 kb新缺失。
结论
发现的新缺失可能参与FOXL2调控，是BPES女性患者中描述的最小缺失。在“新发”明显平衡易位的病例中，仅描述了5 - 6%的表型改变风险。分子研究有助于发现这些改变，并为遗传咨询提供依据。
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