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由于TP63基因突变的生殖系嵌合体导致的手足裂畸形、唇腭裂和严重泌尿生殖系统异常的复发。

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

作者信息

Enriquez Annabelle, Krivanek Michael, Flöttmann Ricarda, Peters Hartmut, Wilson Meredith

机构信息

Department of Clinical Genetics, Children's Hospital at Westmead, Westmead, NSW, Australia.

Discipline of Genetic Medicine, University of Sydney, NSW, Australia.

出版信息

Am J Med Genet A. 2016 Sep;170(9):2372-6. doi: 10.1002/ajmg.a.37816. Epub 2016 Jun 28.

DOI:10.1002/ajmg.a.37816
PMID:27351625
Abstract

We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post-delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodactyly-ectodermal dysplasia-cleft lip with or without cleft palate syndrome (EEC). Both fetuses were found to have the same missense mutation in TP63 (c.1051G > A; p.D351N). Parental clinical examinations and lymphocyte DNA analyses were normal. This report illustrates the potential severity of urogenital defects in TP63-related disorders, which may be detectable with fetal ultrasonography. It highlights the need to counsel for the possibility of germline mosaicism in TP63-associated disorders. © 2016 Wiley Periodicals, Inc.

摘要

我们描述了两例产前超声检查发现泌尿生殖系统异常的同胞胎儿，产后检查显示手足裂畸形以及双侧唇腭裂。这些发现与无指（趾）畸形-外胚层发育不良-唇裂伴或不伴腭裂综合征（EEC）相符。发现两个胎儿的TP63基因均存在相同的错义突变（c.1051G > A；p.D351N）。父母的临床检查和淋巴细胞DNA分析均正常。本报告说明了TP63相关疾病中泌尿生殖系统缺陷的潜在严重性，这可能可通过胎儿超声检查检测到。它强调了在TP63相关疾病中就生殖系嵌合体可能性进行咨询的必要性。© 2016威利期刊公司

相似文献

[1]
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

Am J Med Genet A. 2016-9

[2]
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

Eur J Med Genet. 2024-4

[3]
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

[4]
Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

Clin Dysmorphol. 2017-4

[5]
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

J Gene Med. 2019-8-30

[6]
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

[7]
[Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020-2-10

[8]
A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis.

Am J Med Genet A. 2012-6-27

[9]
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.

Am J Med Genet A. 2013-6

[10]
Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.

Ann Acad Med Stetin. 2013

引用本文的文献

[1]
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

[2]
The molecular genetics of human appendicular skeleton.

Mol Genet Genomics. 2022-9

[3]
TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys.

Mol Genet Genomic Med. 2020-11

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