在一名患有口面裂和外耳道畸形的中国患者中发现新型 TP63 变体：病例报告与文献综述

IF 1.1 4区医学 Q2 Dentistry Cleft Palate-Craniofacial Journal Pub Date : 2024-05-08 DOI:10.1177/10556656241241132

Leheng Jiang, Chanyuan Jiang, Tao Song, Yongqian Wang, Nuo Si, Haidong Li, Ningbei Yin

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引用次数: 0

摘要

TP63 基因对胚胎发育过程中上皮细胞的增殖、分化和维持至关重要。尽管临床差异很大，但 TP63 相关症状的特点是外胚层发育不良、远端肢体畸形和口唇裂。我们在一名七个月大的中国患者身上发现了一个新的 TP63 变体（c.619A > G, p.K207E），该患者患有口唇裂和畸形，但没有明显的外胚层发育不良症状。这种表型以前很少见报道。我们总结了文献中三种主要的 TP63 相关表现，并注意到 CP 和 CL/P 相关变异在 p63 结构域方面的不同分布。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Identification of a Novel TP63 Variant in a Chinese Patient with Orofacial Clefts and Ectrodactyly: Case Report and Literature Review.

The TP63 gene is essential for epithelial proliferation, differentiation, and maintenance during embryogenesis. Despite considerable clinical variability, TP63-related symptoms are characterized by ectodermal dysplasia, distal limb malformations, and orofacial clefts. We identified a novel TP63 variant (c.619A > G, p.K207E) in a seven-month-old Chinese patient with orofacial clefts and ectrodactyly but no evident signs of ectodermal dysplasia. This phenotype was rarely reported before. We summarized the presence of the three main TP63-related manifestations in the literature and noted different distributions of CP- and CL/P-related variants regarding p63 structural domains.

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来源期刊

Cleft Palate-Craniofacial Journal DENTISTRY, ORAL SURGERY & MEDICINE-SURGERY

CiteScore

2.20

自引率

36.40%

发文量

审稿时长

4-8 weeks

期刊介绍： The Cleft Palate-Craniofacial Journal (CPCJ) is the premiere peer-reviewed, interdisciplinary, international journal dedicated to current research on etiology, prevention, diagnosis, and treatment in all areas pertaining to craniofacial anomalies. CPCJ reports on basic science and clinical research aimed at better elucidating the pathogenesis, pathology, and optimal methods of treatment of cleft and craniofacial anomalies. The journal strives to foster communication and cooperation among professionals from all specialties.