PDF(Pubmed)
Abstract：
UNASSIGNED: To describe the clinical and genetic findings of an Axenfeld-Rieger syndrome (ARS) family with a new PITX2 splicing mutation.
UNASSIGNED: A Chinese ARS family with five affected individuals was recruited. Exome sequencing was performed on the proband and the variant (C.253-9C > A) in PITX2 gene was detected as a pathogenic mutation. Sanger sequencing was performed for verification and cosegregation analysis. Real-time polymerase chain reaction (RT- PCR) and Western blotting were performed to verify the expression of the pathogenic gene.
UNASSIGNED: All the patients showed abnormalities in the anterior segment of both eyes including posterior embryotoxon, corectopia, iris dysplasia, and iridocorneal tissue adhesions. In addition, they all presented systemic features, including maxillary hypoplasia, underbite, hypodontia, conical teeth. Only III-7 showed obvious umbilical skin. In the PITX2 family, we identified a novel heterozygous splicing mutation (C.253-9C > A) which was confirmed by Sanger sequencing to be completely cosegregated with the ARS phenotype. Real-time quantitative PCR and Western results showed that PITX2 mRNA and protein expression were significantly lower in patients compared with unrelated normal controls.
UNASSIGNED: In the ARS pedigree, we summarized the variable phenotype, described a novel PITX2 splicing mutation which expand the genetic spectrum of ARS. We further confirmed the possibility of development of ARS induced by this PITX2 gene deficiency.
UNASSIGNED: A Chinese ARS family with five affected individuals was recruited. Exome sequencing was performed on the proband and the variant (C.253-9C > A) in PITX2 gene was detected as a pathogenic mutation. Sanger sequencing was performed for verification and cosegregation analysis. Real-time polymerase chain reaction (RT- PCR) and Western blotting were performed to verify the expression of the pathogenic gene.
UNASSIGNED: All the patients showed abnormalities in the anterior segment of both eyes including posterior embryotoxon, corectopia, iris dysplasia, and iridocorneal tissue adhesions. In addition, they all presented systemic features, including maxillary hypoplasia, underbite, hypodontia, conical teeth. Only III-7 showed obvious umbilical skin. In the PITX2 family, we identified a novel heterozygous splicing mutation (C.253-9C > A) which was confirmed by Sanger sequencing to be completely cosegregated with the ARS phenotype. Real-time quantitative PCR and Western results showed that PITX2 mRNA and protein expression were significantly lower in patients compared with unrelated normal controls.
UNASSIGNED: In the ARS pedigree, we summarized the variable phenotype, described a novel PITX2 splicing mutation which expand the genetic spectrum of ARS. We further confirmed the possibility of development of ARS induced by this PITX2 gene deficiency.
摘要：
未经授权：描述具有新的PITX2剪接突变的Axenfeld-Rieger综合征（ARS）家族的临床和遗传发现。
未经授权：招募了一个有5名患病个体的中国ARS家庭。对先证者进行外显子组测序,检测PITX2基因中的变异体(C.253-9C>A)为致病性突变。进行Sanger测序以进行验证和共分离分析。进行实时聚合酶链反应(RT-PCR)和Western印迹以验证致病基因的表达。
UASSIGNED：所有患者均表现为双眼眼前节异常，包括后胚毒素，阴形目,虹膜发育不良,虹膜角膜组织粘连。此外,它们都呈现了系统特征，包括上颌骨发育不全,下咬合,缺省症,圆锥形的牙齿。只有III-7显示明显的脐皮肤。在PITX2家族中，我们鉴定了一个新的杂合剪接突变(C.253-9C>A),通过Sanger测序证实该突变与ARS表型完全共分离.实时定量PCR和Western检测结果显示,与无亲缘关系的正常对照组相比,患者PITX2mRNA和蛋白表达均明显降低。
未经批准：在ARS谱系中，我们总结了可变表型，描述了一种新的PITX2剪接突变，扩展了ARS的遗传谱。我们进一步证实了这种PITX2基因缺陷诱导ARS发展的可能性。
未经授权：招募了一个有5名患病个体的中国ARS家庭。对先证者进行外显子组测序,检测PITX2基因中的变异体(C.253-9C>A)为致病性突变。进行Sanger测序以进行验证和共分离分析。进行实时聚合酶链反应(RT-PCR)和Western印迹以验证致病基因的表达。
UASSIGNED：所有患者均表现为双眼眼前节异常，包括后胚毒素，阴形目,虹膜发育不良,虹膜角膜组织粘连。此外,它们都呈现了系统特征，包括上颌骨发育不全,下咬合,缺省症,圆锥形的牙齿。只有III-7显示明显的脐皮肤。在PITX2家族中，我们鉴定了一个新的杂合剪接突变(C.253-9C>A),通过Sanger测序证实该突变与ARS表型完全共分离.实时定量PCR和Western检测结果显示,与无亲缘关系的正常对照组相比,患者PITX2mRNA和蛋白表达均明显降低。
未经批准：在ARS谱系中，我们总结了可变表型，描述了一种新的PITX2剪接突变，扩展了ARS的遗传谱。我们进一步证实了这种PITX2基因缺陷诱导ARS发展的可能性。
