Rubinstein‐Taybi syndrome (RSTS) is an autosomal dominant genetic syndrome characterized by distinct facial features, broad thumbs, growth restriction, microcephaly, intellectual disability, and developmental delay. Pathogenic variants in both CREBBP and EP300 have been associated with RSTS. Here we present a case of a female with hyperinsulinism and features consistent with RSTS, found to have a pathogenic variant in EP300. While there have been a few rare case reports of hyperinsulinism in RSTS, we suggest that hyperinsulinism might be a more prominent feature in EP300 variant RSTS than previously recognized.

中文翻译：

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Rubinstein-Taybi 综合征 EP300 变体患者的高胰岛素血症

Rubinstein-Taybi 综合征 (RSTS) 是一种常染色体显性遗传综合征，其特征是明显的面部特征、宽拇指、生长受限、小头畸形、智力障碍和发育迟缓。CREBBP和EP300中的致病变异都与 RSTS 相关。在这里，我们展示了一个患有高胰岛素血症和符合 RSTS 特征的女性病例，发现其在EP300中具有致病性变异。虽然有一些罕见的 RSTS 高胰岛素血症病例报告，但我们认为高胰岛素血症可能是EP300变异 RSTS 中比以前认识到的更突出的特征。