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首页> 外文期刊>AIMS Genetics >Changes in FGFR2 amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus
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Changes in FGFR2 amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus

机译： FGFR2 氨基酸残基Asn549的变化导致Crouzon和Pfeiffer综合征伴脑积水

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Mutations in Fibroblast Growth Factor Receptor II ( FGFR2 ) have been identified in patients with Crouzon and Pfeiffer syndrome, among which rare mutations of the intracellular tyrosine kinase domain. Correlating subtle phenotypes with each rare mutation is still in progress. In Necker-Enfants Malades Hospital, we identified three patients harboring three different pathogenic variants of the same amino acid residue Asn-549 located in this domain: in addition to a very typical crouzonoid appearance, they all developed clinically relevant hydrocephalus, which is an inconstant feature of Crouzon and Pfeiffer syndrome. Overall, FGFR2 tyrosine kinase domain mutations account for 5/67 (7.4%) cases in our hospital. We describe a novel mutation, p.Asn549Ser, and new cases of p.Asn549His and p.Asn549Thr mutations, each reported once before. Our three cases of Asn-549 mutations, alongside with rare previously reported cases, show that these patients are at higher risk of hydrocephalus. Clinical and imaging follow-up, with possible early surgery, may help prevent secondary intellectual disability.
机译：在患有克鲁佐氏和普发综合征的患者中已经鉴定出成纤维细胞生长因子受体II（FGFR2）突变，其中细胞内酪氨酸激酶结构域的罕见突变。微妙的表型与每个罕见突变的相关性仍在研究中。在Necker-Enfants Malades医院，我们确定了三名患者，它们携带有位于同一域的同一氨基酸残基Asn-549的三种不同的致病变体：除了非常典型的环状类外观外，他们都发展出与临床相关的脑积水，这是一个不稳定的现象Crouzon和Pfeiffer综合征的特征。总体而言，在我院，FGFR2酪氨酸激酶结构域突变占5/67（7.4％）病例。我们描述了一个新的突变p.Asn549Ser，以及p.Asn549His和p.Asn549Thr突变的新病例，每个病例以前都报告过一次。我们的3例Asn-549突变以及以前罕见的病例表明，这些患者脑积水的风险较高。临床和影像学随访以及可能的早期手术可能有助于预防继发性智力障碍。

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