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A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome

机译：Axenfeld-Rieger综合征患者中PITX2的新型突变。

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Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. Diagnostic sequencing of 23 genes known to be causally related to the condition was performed on the patient, parents, and maternal grandparents. A variant of uncertain significance in PITX2 was identified. The mother had the same mutation and the father did not. The mother had decreased vision, congenitally missing teeth, and required jaw surgery as a child. Her asymptomatic parents elected to be tested and were negative for the mutation. The mutation, {"type":"entrez-nucleotide","attrs":{"text":"NM_153427.2","term_id":"324711006","term_text":"NM_153427.2"}}NM_153427.2:c.272G>A (p.Arg91Gln), is predicted to be damaging by PolyPhen-2 (score of 0.997), identified as a missense mutation with an allele frequency of 1.648e-05 by the Exome Aggregation Consortium, and has been reported in ClinVar once, by the laboratory that analyzed our patient's sample. Due to the in silico predictions and the results of family studies, it is suggested that this variant can be classified as pathogenic according to the American College of Medical Genetics and Genomics 2015 rule Pathogenic(iii)(b), specifically rules PS2, PM2, PM5, PP1, and PP3.
机译：Axenfeld-Rieger综合征是一种罕见的常染色体显性疾病。异常包括眼的前节发育不全，牙齿异常，上颌发育不全，脐周异常和先天性心脏缺陷。我们报告了一名患者，患有彼得斯异常，畸形，先天性心脏病，脐疝，身材矮小和发育迟缓。对患者，父母和祖父母祖父母进行了与该病因相关的23种基因的诊断测序。在PITX2中发现了一个不确定意义的变体。母亲有相同的突变，父亲没有。母亲的视力下降，先天缺失牙齿，小时候需要进行下颌手术。她的无症状父母选择接受检测，并且对该突变阴性。突变，{“ type”：“ entrez-nucleotide”，“ attrs”：{“ text”：“ NM_153427.2”，“ term_id”：“ 324711006”，“ term_text”：“ NM_153427.2”}} NM_153427。 2：c.272G> A（p.Arg91Gln）被PolyPhen-2破坏（分数0.997），被Exome Aggregation Consortium鉴定为等位基因频率为1.648e-05的错义突变，并具有分析我们患者样本的实验室曾在ClinVar中报道过此事。由于计算机模拟的预测和家族研究的结果，建议根据美国医学遗传学和基因组学2015规则Pathogenic（iii）（b），特别是PS2，PM2， PM5，PP1和PP3。

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