Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
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DOI：
10.1038/sj.ejhg.5201640
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发表时间：
2006-08-01
影响因子：
5.2
通讯作者：
van Bokhoven, Hans
中科院分区：
文献类型：
--
作者：
Rinne, Tuula;Spadoni, Emanuela;van Bokhoven, Hans
成人综合征是一种罕见的与肢体畸形相关的外胚层发育不良，由p63基因杂合突变引起。成人综合征与其他p63突变综合征有临床上的重叠，如EEC(OMIM 604292)、LMS(OMIM 603543)、AEC(106260)、RHS(129400)和SHFM4(605289)。成人综合征的特点是指外翻，外胚层发育不良，乳腺发育不良，唇腭部正常。后一种发现有助于与EEC综合征的鉴别。LMS的不同之处在于外胚层受累较轻。在这里，我们报告了三个新的无关的成人综合征家系，都带有精氨酸298突变。在5个R298突变家系16例患者的基础上，我们描述了成人综合征的表型。此外，我们还记录了这种突变对dNp63伽马异构体的功能增益效应。我们讨论了一位携带p63胚系突变的患者患口腔鳞状细胞癌的可能相关性。
The ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth, OMIM 103285) is a rare ectodermal dysplasia associated with limb malformations and caused by heterozygous mutations in p63. ADULT syndrome has clinical overlap with other p63 mutation syndromes, such as EEC (OMIM 604292), LMS (OMIM 603543), AEC (106260), RHS (129400) and SHFM4 (605289). ADULT syndrome characteristics are ectrodactyly, ectodermal dysplasia, mammary gland hypoplasia and normal lip and palate. The latter findings allow differentiation from EEC syndrome. LMS differs by milder ectodermal involvement. Here, we report three new unrelated ADULT syndrome families, all with mutations of arginine 298. On basis of 16 patients in five families with R298 mutation, we delineate the ADULT syndrome phenotype. In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation.