A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay

被引：6

作者：

Maldziene, Zivile ^{[1
,2
]}

Preiksaitiene, Egle ^{[1
,2
]}

Ignotiene, Salomeja ^{[3
]}

Kapitanova, Natalija ^{[2
]}

Utkus, Algirdas ^{[1
,2
]}

Kucinskas, Vaidutis ^{[1
,2
]}

机构：

[1] Vilnius Univ, Fac Med, Dept Human & Med Genet, Santariskiu St 2, LT-08661 Vilnius, Lithuania

[2] Vilnius Univ Hosp, Ctr Med Genet, Santariskiu Klin, Vilnius, Lithuania

[3] Vilnius Univ Hosp, Dept Ophthalmol, Santariskiu Klin, Childrens Hosp, Vilnius, Lithuania

来源：

CYTOGENETIC AND GENOME RESEARCH | 2017年 / 151卷 / 01期

关键词：

Axenfeld-Rieger syndrome; Deletion; 4p15.2; Intellectual disability; Pericentric inversion; PITX2; GENE; EXPRESSION; MUTATIONS;

D O I：

10.1159/000456695

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements. Elucidation of the exact genetic cause of ARS is important for comprehensive genetic counseling of the family members and for better patient management. (C) 2017 S. Karger AG, Basel

引用

页码：5 / 9

页数：5

共 4 条

[1] Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome
Tian, Yu
Zhou, Xiao-Xia
Zhao, Su-Zhou
Peng, Mei
Jia, Jia
OPHTHALMIC GENETICS, 2024, 45 (06) : 626 - 632
[2] A novel 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome
Yang, Yi
Wang, Xin
Zhao, Yuming
Qin, Man
ORAL DISEASES, 2018, 24 (07) : 1247 - 1254
[3] A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy
Kletke, Stephanie N.
Vincent, Ajoy
Maynes, Jason T.
Elbaz, Uri
Mireskandari, Kamiar
Lam, Wai-Ching
Ali, Asim
OPHTHALMIC GENETICS, 2020, 41 (04) : 358 - 362
[4] A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay
Liang, Liyang
Xie, Yingjun
Shen, Yiping
Yin, Qibin
Yuan, Haiming
CYTOGENETIC AND GENOME RESEARCH, 2016, 150 (02) : 112 - 117

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