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首页> 外文期刊>Ophthalmic genetics >Craniosynostosis with Ectopia Lentis and a Homozygous 20-base Deletion in ADAMTSL4
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Craniosynostosis with Ectopia Lentis and a Homozygous 20-base Deletion in ADAMTSL4

机译：ADAMTSL4中的Eccopia Lentis和纯合20碱基缺失的颅前突。

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Craniosynostosis with ectopia lentis has been described five times since 1950 with unknown inheritance and variable phenotype. The patient was diagnosed with right coronal synostosis at age 10 weeks requiring surgery, and bilateral ectopia lentis with high myopia at 10 months. No other family member was affected. There is no known consanguinity within the family. Genetic screening ruled out FBN1, TGFBR2, and the known craniosynostosis hotspots (FGFR2 exon 8 and exon 10 and FGFR3 exon 6) as the cause. A homozygous deletion in exon 6 of ADAMTSL4 (c.767-786del 20) that has been shown to cause isolated ectopia lentis was found. The mutation results in a premature termination codon (p.Gln256ProfsX38). The proband's mother, father and one sibling are heterozygous carriers of the mutation. This is the first detailed report of a possible genetic determinant of craniosynostosis with ectopia lentis. Although this mutation causes isolated ectopia lentis, this may be evidence of pleiotropic effects of ADAMTSL4 and may represent an overlapping syndrome with a causative mutation in ADAMTSL4. These findings need to be confirmed in further cases with craniosynostosis and ectopia lentis.
机译：自1950年以来，已经有五次描述了带有ectopia lentis的颅骨融合症，具有未知的遗传和可变的表型。该患者在10周大时被诊断患有右冠状动脉滑膜增生，需要手术治疗，而在10个月时被诊断为双眼外直视性高眼近视。没有其他家庭成员受到影响。家庭中没有已知的血缘关系。遗传筛查排除了FBN1，TGFBR2和已知的颅突前病变热点（FGFR2外显子8，外显子10和FGFR3外显子6）为原因。发现ADAMTSL4外显子6（c.767-786del 20）的纯合缺失，已表明可导致分离出的外延性扁豆。突变导致终止密码子过早（p.Gln256ProfsX38）。先证者的母亲，父亲和一个兄弟姐妹是突变的杂合子携带者。这是关于迟发性眼外翻的可能的遗传因素决定的颅骨闭合的首次详细报道。尽管此突变导致分离出的近视性扁豆，但这可能是ADAMTSL4的多效作用的证据，并且可能代表ADAMTSL4中因果突变的重叠综合征。这些发现需要在颅前突和轻度扩张的进一步病例中得到证实。

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