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三个中国家系中杂合性 TP63 突变导致的 EEC 和 AEC 综合征的牙齿缺陷，以及 TP63 相关疾病的基因型-表型相关性分析。

Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.

机构信息

Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology, Peking University School and Hospital of Stomatology, Beijing, China.

National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology, The 3rd Dental Clinic, Peking University School and Hospital of Stomatology, Beijing, China.

出版信息

Mol Genet Genomic Med. 2019 Jun;7(6):e704. doi: 10.1002/mgg3.704. Epub 2019 May 2.

DOI:10.1002/mgg3.704
PMID:31050217
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6565570/
Abstract

BACKGROUND: Ectrodactyly-Ectodermal dysplasia-Cleft lip/palate (EEC) syndrome and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome belong to p63 syndromes, a group of rare disorders exhibiting a wide variety of clinical manifestations. TP63 mutations have been reported to be associated with both EEC and AEC. METHODS: Analysis of whole exome sequencing (WES) from patients with EEC or AEC syndrome and Sanger sequencing from family members. RESULTS: We confirmed that three Chinese pedigrees affected with EEC or AEC harboring a distinct TP63 mutation, and described novel clinical phenotypes of EEC and AEC, including the presence of cubitus valgus deformity and taurodontism, which were discordant to their classical disease features. We also analyzed the genotype-phenotype correlation based on our findings. CONCLUSION: We reported that the cubitus valgus deformity in patients with EEC and severe taurodontism in a patient with AEC had not been mentioned previously. Our study expands the phenotypic spectrum of EEC and AEC syndrome.

摘要

背景：并指（趾）-外胚层发育不良-唇腭裂（EEC）综合征和睑-外胚层缺陷-唇腭裂（AEC）综合征属于 p63 综合征，这是一组罕见疾病，具有广泛的临床表现。已有报道称，TP63 突变与 EEC 和 AEC 均有关联。

方法：对 EEC 或 AEC 综合征患者进行全外显子组测序（WES）分析，并对家族成员进行 Sanger 测序。

结果：我们证实，三个受 EEC 或 AEC 影响的中国家系携带有明显的 TP63 突变，并描述了 EEC 和 AEC 的新的临床表型，包括存在肘外翻畸形和尖牙畸形，这与它们的经典疾病特征不一致。我们还根据我们的发现分析了基因型-表型相关性。

结论：我们报告称，EEC 患者中存在肘外翻畸形，AEC 患者中存在严重的尖牙畸形，这在以前并未被提及。我们的研究扩展了 EEC 和 AEC 综合征的表型谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/f86b9355a8a7/MGG3-7-e704-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/7306ed5c94f4/MGG3-7-e704-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/cc64af59c3cf/MGG3-7-e704-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/5f5cba3c41ee/MGG3-7-e704-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/e190fadb7bc8/MGG3-7-e704-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/f86b9355a8a7/MGG3-7-e704-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/7306ed5c94f4/MGG3-7-e704-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/cc64af59c3cf/MGG3-7-e704-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/5f5cba3c41ee/MGG3-7-e704-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/e190fadb7bc8/MGG3-7-e704-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f8c/6565570/f86b9355a8a7/MGG3-7-e704-g005.jpg

相似文献

[1]
Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.

Mol Genet Genomic Med. 2019-5-2

[2]
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.

Ital J Pediatr. 2021-9-28

[3]
Sweating ability of patients with p63-associated syndromes.

Eur J Pediatr. 2018-8-7

[4]
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

Eur J Med Genet. 2024-4

[5]
Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.

Ophthalmic Genet. 2017

[6]
A newborn with overlapping features of AEC and EEC syndromes.

Am J Med Genet A. 2011-11-7

[7]
Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.

Br J Dermatol. 2010-9

[8]
TP63-related disorders: two case reports and a brief review of the literature.

Dermatol Online J. 2021-11-15

[9]
Modeling AEC-New approaches to study rare genetic disorders.

Am J Med Genet A. 2014-10

[10]
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).

Am J Med Genet A. 2009-9

引用本文的文献

[1]
Prevalence and root canal morphology of taurodontism analyzed by cone-beam computed tomography in Northern China.

BMC Oral Health. 2025-1-2

[2]
Prevalence of taurodontism in individuals in Northwest China determined by cone-beam computed tomography images.

Heliyon. 2023-4-15

[3]
Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.

Front Genet. 2022-10-31

[4]
Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.

J Clin Med. 2022-10-15

[5]
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

BMC Med Genomics. 2022-7-13

[6]
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

Sci Rep. 2022-7-11

[7]
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with gene mutation and gene variants.

Clin Case Rep. 2021-8-10

[8]
Taurodontism in dental genetics.

BDJ Open. 2021-7-9

[9]
Novel MSX1 variants identified in families with nonsyndromic oligodontia.

Int J Oral Sci. 2021-1-8

本文引用的文献

[1]
Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.

Mol Med Rep. 2018-3-29

[2]
P63 expression plays a role in developmental rate, embryo size, and local morphogenesis.

Dev Dyn. 2018-3-1

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ADULT syndrome: dental features of a very rare condition.

J Biol Regul Homeost Agents. 2017

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Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).

Am J Med Genet A. 2009-9

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p63: oncogene or tumor suppressor?

Curr Opin Genet Dev. 2006-2

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Am J Hum Genet. 2002-7

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p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

Am J Hum Genet. 2001-9

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Cell. 1999-10-15

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Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Am J Hum Genet. 1999-2

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p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities.

Mol Cell. 1998-9

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