Caselli R, Mencarelli M A, Papa F T, Uliana V, Schiavone S, Strambi M, Pescucci C, Ariani F, Rossi V, Longo I, Meloni I, Renieri A, Mari F
Medical Genetics, University of Siena, Molecular Biology Department, V.Le Bracci, 53100 Siena, SI, Italy.
Eur J Med Genet. 2007 Jul-Aug;50(4):315-21. doi: 10.1016/j.ejmg.2007.03.003. Epub 2007 Apr 14.
We report a female patient with neurodevelopmental delay and peculiar facial features. She has postnatal growth failure and an atrial septal defect. Patent duct arteriosis and tricuspidal insufficiency were also noted at birth. Characteristic facial features include medial flare eyebrows, dysmorphic helix of the right ear, cupshaped left ear, anteverted nares, long and smooth philtrum, thin upper lip, high vaulted palate. Array-CGH analysis demonstrated the presence of a 2.6 Mb deletion in 6q24.3-25.1. The phenotypic features of this case are very similar to those previously reported in a patient with a 7Mb overlapping deletion, pointing to a specific new syndrome. Twenty-two genes are present in the common critical deleted region. Among them, there is the PPP1R14C gene that encodes for KEPI, a PKC-potentiated inhibitory protein for type-1 Ser/Thr protein phosphatase. Its selective distribution in brain and heart well correlates with developmental delay and cardiac anomalies observed in the patient.
我们报告了一名患有神经发育迟缓及特殊面部特征的女性患者。她出生后生长发育迟缓，患有房间隔缺损。出生时还发现动脉导管未闭和三尖瓣关闭不全。特征性面部特征包括眉内侧上扬、右耳耳轮畸形、左耳杯状、鼻孔前倾、人中长且平滑、上唇薄、高拱腭。阵列比较基因组杂交（Array-CGH）分析显示6q24.3 - 25.1存在一个2.6 Mb的缺失。该病例的表型特征与先前报道的一名有7Mb重叠缺失患者的特征非常相似，提示一种特定的新综合征。常见关键缺失区域存在22个基因。其中，有PPP1R14C基因，其编码KEPI，一种1型丝氨酸/苏氨酸蛋白磷酸酶的蛋白激酶C增强抑制蛋白。它在脑和心脏中的选择性分布与患者观察到的发育迟缓及心脏异常密切相关。
