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Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Journal of Human Genetics ( IF 3.5 ) Pub Date : 2020-02-03 , DOI: 10.1038/s10038-020-0726-x
Celia Zazo-Seco 1 , Julie Plaisancié 1, 2 , Pierre Bitoun 3 , Marta Corton 4 , Ana Arteche 4 , Carmen Ayuso 4 , Adele Schneider 5 , Dimitra Zafeiropoulou 6 , Christian Gilissen 6 , Olivier Roche 7 , Felix Frémont 8 , Patrick Calvas 1, 2 , Anne Slavotinek 9 , Nicola Ragge 10, 11 , Nicolas Chassaing 1, 2, 12
Affiliation  

Microphthalmia, anophthalmia, and anterior segment dysgenesis are severe ocular developmental defects. There is a wide genetic heterogeneity leading to these ocular malformations. By using whole genome, exome and targeted sequencing in patients with ocular developmental anomalies, six biallelic pathogenic variants (including five novel variants) were identified in the PXDN gene in four families with microphthalmia and anterior segment dysgenesis. Only 11 different mutations (11 families) have been described in this gene to date. The phenotype of these patients is variable in severity, ranging from cataract and developmental glaucoma to complex microphthalmia. Interestingly, two unrelated patients of our series presented with an ocular phenotype including aniridia and microspherophakia. However, despite various phenotypic presentations and types of mutations, no genotype-phenotype correlation could be made. Thus, this work improves our knowledge of the recessive phenotype associated with biallelic variants in this gene and highlights the importance of screening PXDN in patients with anterior segment dysgenesis with or without microphthalmia.

中文翻译:

小眼症和前节发育不全的患者中的新型PXDN双等位基因变体。

小眼,无眼和前节发育不全是严重的眼部发育缺陷。存在广泛的遗传异质性导致这些眼畸形。通过使用全基因组,外显子组和眼部发育异常患者的靶向测序,在四个具有小眼病和前节发育不全的家族的PXDN基因中鉴定出六个双等位基因致病变体(包括五个新变体)。迄今为止,该基因仅描述了11个不同的突变(11个家族)。这些患者的表型严重程度不同,从白内障和发育性青光眼到复杂的小眼症。有趣的是,我们系列中的两名无关患者表现出眼表型,包括无虹膜和微球菌。然而,尽管有各种表型表现形式和突变类型,但无法进行基因型与表型的相关性。因此,这项工作提高了我们对与该基因中双等位基因变异相关的隐性表型的认识,并强调了在伴有或不伴有小眼症的前节发育不全患者中筛选PXDN的重要性。
更新日期:2020-02-03
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