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首页> 外文期刊>Molecular syndromology >Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum
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Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum

机译：FGFR2相关颅突神经综合征的非典型皮肤表现拓宽了表型谱

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摘要

Crouzon syndrome (CS) and Beare-Stevenson syndrome (BSS) are craniosynostosis syndromes caused by mutations in the fibroblast growth factor 2 (iFGFR2/i) gene. CS is more common (1 in 60,000 live births) than BSS, where fewer than 20 individuals have been reported. The cardinal features of BSS are craniosynostosis, cutis gyrata, acanthosis nigricans, skin furrows, skin tags, anogenital anomalies, and a prominent umbilical stump. Previously described individuals with BSS have typically had mutations in exon 11 of iFGFR2/i. Here, we present 2 patients with CS who have significant skin manifestations and some phenotypic overlap with BSS. De novo mutations in exon 8 of iFGFR2/i were identified in both; one is a mutation (c.799TC; p.Ser267Pro) previously identified in individuals with CS and the other a novel in-frame deletion (c.820_824delinsTT; p.Val274_Glu275delinsLeu). No mutations in exon 11 of iFGFR2/i, where previously reported BSS mutations have been located, were identified. This case expands the phenotypic spectrum of CS and highlights the overlap between conditions caused by mutations in iFGFR2/i.
机译：Crouzon综合征（CS）和Beare-Stevenson综合征（BSS）是由成纤维细胞生长因子2（ FGFR2 ）基因突变引起的颅突综合征。 CS比BSS更普遍（60,000例活产中有1例），而BSS却少于20例。 BSS的主要特征是颅前突，角质层，黑棘皮症，皮肤犁沟，皮肤标签，肛门生殖器异常和突出的脐残端。先前描述的具有BSS的个体通常在 FGFR2 的外显子11中具有突变。在这里，我们介绍了2名CS患者，这些患者具有明显的皮肤表现并且与BSS有一些表型重叠。双方都发现了 FGFR2 外显子8的从头突变。一个是先前在具有CS的个体中发现的突变（c.799T> C; p.Ser267Pro），另一个是新的读框内缺失（c.820_824delinsTT; p.Val274_Glu275delinsLeu）。未发现先前报道的BSS突变位于 FGFR2 的外显子11中的突变。这种情况扩大了CS的表型谱，并突出了由 FGFR2 突变引起的条件之间的重叠。

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