Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy.
Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11.
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate. We report on a 39-year-old patient who was found to be heterozygous for a c.401G > T (p.Gly134Val) de novo mutation of TP63. This patient had the ADULT phenotype associated with cleft palate. Our findings, rather than extend the clinical spectrum of ADULT syndrome, suggest that cleft palate can no longer be considered an element for differential diagnosis for ADULT, EEC, and LMS. Our data, added to other reports on overlapping phenotypes, support the combining of these three phenotypes into a unique entity that we propose to call "ELA syndrome," which is an acronym of ectrodactyly-ectodermal dysplasia-cleft lip and palate, limb-mammary, and ADULT syndromes.
先天性acro-dermato-ungual-lacrimal-tooth (ADULT) 综合征是一种罕见的疾病,属于外胚层发育不良的一种,由 TP63 基因突变引起。其临床表型与并指(趾)-外胚层发育不良-唇/腭裂(EEC)和肢体-乳腺综合征(LMS)相似,但与这些疾病的主要区别在于无唇/腭裂。我们报告了一位 39 岁的患者,该患者为 TP63 的 c.401G > T(p.Gly134Val)杂合性新生突变。该患者具有与腭裂相关的 ADULT 表型。我们的发现,而不是扩展 ADULT 综合征的临床谱,表明腭裂不能再被视为 ADULT、EEC 和 LMS 鉴别诊断的一个要素。我们的数据,加上其他关于重叠表型的报告,支持将这三种表型组合成一个独特的实体,我们建议将其称为“ELA 综合征”,这是外胚层发育不良-唇腭裂、肢体-乳腺和 ADULT 综合征的缩写。
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