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首页> 外文期刊>Investigative ophthalmology & visual science >A Homozygous Microdeletion within ADAMTSL4 in Patients with Isolated Ectopia Lentis: Evidence of a Founder Mutation
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A Homozygous Microdeletion within ADAMTSL4 in Patients with Isolated Ectopia Lentis: Evidence of a Founder Mutation

机译：ADAMTSL4内纯净的微缺失在孤立的埃塞俄比亚Lentis患者中：建立者突变的证据。

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Purpose.: The purpose of the study was to look for ADAMTSL4 mutations in a cohort of German patients with isolated ectopia lentis from nonconsanguineous families. Methods.: Mutation screening was performed by PCR amplification of the coding exons of ADAMTSL4 and subsequent sequencing. Results.: An identical homozygous deletion of 20 bp of coding sequence within exon 6 (NM_019032.4:c.759_778del20) was identified in eight individuals from seven unrelated families. In a screen of 360 ethnically matched, unaffected individuals, two heterozygous mutation carriers were found. The mutation was always accompanied by the identical haplotype, suggestive of a founder mutation. Conclusions.: The results emphasize the association of ADAMTSL4 null mutations with isolated ectopia lentis and the presence of a founder mutation in the European population. Screening of ADAMTSL4 should be considered in all patients with isolated ectopia lentis, with or without family history. In patients from nonconsanguineous families, the authors propose a two-step diagnostic approach, starting with an examination of exon 6 before sequencing the entire coding region of ADAMTSL4.
机译：目的：该研究的目的是在一群来自非近亲家庭的孤立性外翻性慢视的德国患者中寻找ADAMTSL4突变。方法：通过PCR扩增ADAMTSL4的编码外显子并随后测序来进行突变筛选。结果：在来自七个无关家族的八个人中，在第6外显子（NM_019032.4：c.759_778del20）中发现了20 bp编码序列的纯合缺失。在360个种族匹配，未受影响的个体的屏幕中，发现了两个杂合突变携带者。突变总是伴随着相同的单倍型，提示创始人突变。结论：这些结果强调了ADAMTSL4无效突变与孤立的ectopia lentis的关联以及在欧洲人群中存在奠基者突变。在所有有或没有家族史的孤立性外翻性慢视患者中均应考虑筛查ADAMTSL4。对于非近亲家庭的患者，作者提出了一种分两步的诊断方法，首先对外显子6进行检查，然后对ADAMTSL4的整个编码区进行测序。

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