EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
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DOI：
10.1097/md.0000000000022816
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发表时间：
2020-10-30
期刊：
影响因子：
1.6
通讯作者：
Yoshiura KI
中科院分区：
文献类型：
--
作者：
Otsuki Y;Ueda K;Nuri T;Satoh C;Maekawa R;Yoshiura KI
缺指（趾）外胚层发育不良-唇/腭裂（EEC）综合征、肢体-乳房综合征（LMS）和肢端-皮肤-指甲-泪腺-牙齿（ADP 63）综合征是由TP 63基因紊乱引起的，具有相似的特征。本文报道了TP 63中的一个R319 H突变，并结合该病例和以往文献讨论了基因型与表型的相关性。一名13岁的日本男孩患有右手和左脚的缺指和左右脚的并指，以及牙齿形状异常。采集外周血样本，进行突变分析。在TP 63基因cDNA第956位发现一个G>A杂合突变，结合临床表现和突变分析结果，诊断为ELA（EEC/LM/AD）综合征。患者在1岁时接受手术矫正左脚畸形，在11岁时接受手术矫正右脚并指畸形。第一次和第二次手术后未观察到并发症。他可以在他们之后舒适地行走，并且不会计划对他进行额外的干预。我们继续跟踪他直到现在。ELA综合征的概念是将3种综合征（EEC综合征/LMS综合征/ADP 63综合征）合并为一个独特的临床实体的原始概念，可以帮助临床医生更好地了解TP 63相关综合征，并提高这些综合征的鉴别诊断。
Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the correlation between genotype and phenotype is discussed based on the current case and previous literature. A 13-year-old Japanese boy had ectrodactyly in the right hand and left foot and syndactyly in the left and right foot, and tooth shape abnormalities. Peripheral blood samples were obtained, and mutation analysis was performed. A heterozygous G>A transition at cDNA position 956 of the TP63 gene was found. The patient was diagnosed with ELA (EEC/LM/ADULT) syndrome based on his clinical features and mutation analysis results. The patient underwent surgery to correct the left foot malformation at 1 year of age and the right foot syndactyly at 11 years of age. No complications were observed after the first and second operations. He can walk comfortably after them, and no additional interventions will be planned in him. We continued to follow up with him up to the present. The concept of ELA syndrome, which is the original concept of combining 3 syndromes (EEC syndrome/LMS/ADULT syndrome) into a unique clinical entity, can help clinicians to better understand TP63-related syndromes and improve the differential diagnosis of these syndromes.