Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63.
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63.
复制标题
TP63中由R243Q突变引起的成年综合征与EEC综合征之间的中间表型。
DOI：
10.1097/gox.0000000000001185
复制
发表时间：
2016-12
期刊：
影响因子：
--
通讯作者：
Iseki S
中科院分区：
文献类型：
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作者：
Otsuki Y;Ueda K;Satoh C;Maekawa R;Yoshiura KI;Iseki S
本文描述了一位患有指外畸形、皮肤干燥、剥脱性皮炎和齿下畸形的患者，伴有钉状牙齿，但没有唇裂和腭裂。伴有牙齿异常的指外畸形是在皮肤-足-泪齿（成人）综合征和指外-外胚层发育不良-裂（EEC）综合征中公认的。这两种综合征是由转录因子基因p63的杂合突变引起的。p63基因突变分析显示患者存在杂合突变c.728G> a, p.Arg243Gln（以前称为R204Q），但在其父母中未发现。因此，这是p63突变相关疾病的散发性病例。虽然这种突变大多在EEC综合征患者中报道，但本病例并未出现唇腭裂。此外，本病例没有表现出雀斑或其他一些典型的成人综合征的外胚层发育不良表型。Prontera于2011年提出ELA综合征的概念，解决了本病例诊断面临的问题。ELA综合征是EEC/肢体-乳腺综合征/ADULT综合征的首字母缩略词，这3种综合征统一为一个独特的实体。该系统可以简单地对p63突变相关疾病进行分类，而不会干扰治疗。
A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional factor gene p63. Mutation analysis of p63 gene showed a heterozygous mutation c.728G>A, p.Arg243Gln (previously referred to as R204Q) in the patient, but not in his parents. Therefore, this was a sporadic case of the p63 mutation–associated disorder. Although the mutation has been mostly reported in EEC syndrome patients, the present case did not have cleft lip and palate. Furthermore, the present case did not exhibit freckling or some of the other ectodermal dysplasia phenotypes typical of ADULT syndrome. The concept of ELA syndrome proposed by Prontera in 2011 resolves the problem confronted in diagnosing the present case. ELA syndrome is an acronym of EEC/limb–mammary syndrome/ADULT syndromes, and these 3 syndromes are united into a unique entity. This system can classify p63 mutation–associated disorders simply without interfering with treatment.