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患者存在腭裂和成人表型,携带新型 TP63 突变,提示 EEC/LM/ADULT 综合征可归为一个独特的实体:ELA 综合征。

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

机构信息

Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy.

出版信息

Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11.


DOI:10.1002/ajmg.a.34270
PMID:21990121
Abstract

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.

摘要

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。

相似文献

[1]
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Am J Med Genet A. 2011-10-11

[2]
EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.

Medicine (Baltimore). 2020-10-30

[3]
ADULT syndrome due to an R243W mutation in TP63.

Int J Dermatol. 2012-6

[4]
ADULT syndrome caused by a mutation previously associated with EEC syndrome.

Pediatr Dermatol. 2010

[5]
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.

Am J Med Genet A. 2011-11-8

[6]
EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.

Hum Mutat. 2013-4-2

[7]
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

Eur J Med Genet. 2024-4

[8]
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes and .

Ophthalmic Genet. 2024-2

[9]
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.

Pediatr Dermatol. 2016-9

[10]
ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation.

Int J Dermatol. 2019-3

引用本文的文献

[1]
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the Gene.

Mol Syndromol. 2024-2

[2]
Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality.

Front Genet. 2023-10-18

[3]
The Role of Mutant p63 in Female Fertility.

Int J Mol Sci. 2021-8-20

[4]
Isoform-Specific Roles of Mutant p63 in Human Diseases.

Cancers (Basel). 2021-1-31

[5]
The p63 C-terminus is essential for murine oocyte integrity.

Nat Commun. 2021-1-15

[6]
EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.

Medicine (Baltimore). 2020-10-30

[7]
ADULT Phenotype and rs16864880 in the Gene: Two New Cases and Review of the Literature.

Mol Syndromol. 2017-6

[8]
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63.

Plast Reconstr Surg Glob Open. 2016-12-22

[9]
Tooth agenesis and orofacial clefting: genetic brothers in arms?

Hum Genet. 2016-12

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