Hyperproliferative embryotoxon simulating double cornea

2021 ◽  
Vol 14 (12) ◽  
pp. e246960
Author(s):  
Karthikeyan Mahalingam ◽  
Abhishek Singh ◽  
Viney Gupta ◽  
Shikha Gupta
Keyword(s):  
Rieger Syndrome

Posterior embryotoxon, an anteriorly displaced Schwalbe’s line, is the most common feature of Axenfeld Rieger syndrome. We report a case of Axenfeld anomaly with unusual corneal manifestation, that is, a fairly symmetric, hyperproliferated posterior embryotoxon mimicking double cornea as well as a double pupil.

scholarly journals Loss of FOXC1 contributes to the corneal epithelial fate switch and pathogenesis

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Mingsen Li ◽  
Liqiong Zhu ◽  
Jiafeng Liu ◽  
Huaxing Huang ◽  
Huizhen Guo ◽  
...  
Keyword(s):  
Epithelial Cells ◽  
Corneal Epithelium ◽  
Corneal Ulcer ◽  
Corneal Epithelial ◽  
Ocular Development ◽  
Rieger Syndrome ◽  
Corneal Ulcers ◽  
Epithelial Homeostasis ◽  
Forkhead Box ◽  
Interferon Regulatory Factor 1

AbstractForkhead box C1 (FOXC1) is required for neural crest and ocular development, and mutations in FOXC1 lead to inherited Axenfeld–Rieger syndrome. Here, we find that FOXC1 and paired box 6 (PAX6) are co-expressed in the human limbus and central corneal epithelium. Deficiency of FOXC1 and alternation in epithelial features occur in patients with corneal ulcers. FOXC1 governs the fate of the corneal epithelium by directly binding to lineage-specific open promoters or enhancers marked by H3K4me2. FOXC1 depletion not only activates the keratinization pathway and reprograms corneal epithelial cells into skin-like epithelial cells, but also disrupts the collagen metabolic process and interferon signaling pathways. Loss of interferon regulatory factor 1 and PAX6 induced by FOXC1 dysfunction is linked to the corneal ulcer. Collectively, our results reveal a FOXC1-mediated regulatory network responsible for corneal epithelial homeostasis and provide a potential therapeutic target for corneal ulcer.

Umbilical Morphology: Normal Values for Neonatal Periumbilical Skin Length

PEDIATRICS ◽  
1992 ◽  
Vol 90 (1) ◽  
pp. 47-49
Author(s):  
Aengus S. O'Marcaigh ◽  
Lora B. Folz ◽  
Virginia V. Michels
Keyword(s):  
Regression Analysis ◽  
Birth Weight ◽  
Gestational Age ◽  
Normal Values ◽  
The Other ◽  
Male And Female ◽  
Rieger Syndrome ◽  
Neonatal Diagnosis ◽  
Robinow Syndrome ◽  
Aarskog Syndrome

Malformations of the umbilicus are a feature of many dysmorphic syndromes including Rieger syndrome, Robinow syndrome, and Aarskog syndrome. The characteristic umbilical malformation in Rieger syndrome consists of redundant periumbilical skin which extends along the cord for an excessive distance. Although the measurement of umbilical skin length plays an important role in the neonatal diagnosis of Rieger syndrome, normal values for this measurement in healthy neonates have not been established. Umbilical skin length was measured in 104 healthy neonates. The length to which the umbilical skin extended along the cranial aspect of cord (mean 11.53 mm, SD 3.58) was significantly longer than the umbilical skin length along the caudal aspect (mean 8.71 mm, SD 2.89) (P < .05). Multiple regression analysis revealed a significant association between age and umbilical skin length. Birth weight, length, and gestational age were not significantly associated with umbilical skin length when adjusted for the other three variables. No significant differences in umbilical skin length were observed between male and female groups. The above normal values should aid in the neonatal diagnosis of Rieger syndrome, and furthermore it is recommended that cranial umbilical skin length measurement be included in the examination of the dysmorphic child.

The Rieger Syndrome and a Chromosome 13 Deletion

1987 ◽  
Vol 24 (4) ◽  
pp. 198-203
Author(s):  
Rena A Stathacopoulos ◽  
J Bronwyn Bateman ◽  
Robert S Sparkes ◽  
Robert S Hepler
Keyword(s):  
Chromosome 13 ◽  
Rieger Syndrome

scholarly journals Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

2006 ◽  
Vol 7 (1) ◽  
Author(s):  
Guillaume de la Houssaye ◽  
Ivan Bieche ◽  
Olivier Roche ◽  
Véronique Vieira ◽  
Ingrid Laurendeau ◽  
...  
Keyword(s):  
Case Report ◽  
Rieger Syndrome ◽  
Intragenic Deletion ◽  
Pitx2 Gene

A novel homeobox mutation in thePITX2gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes

2006 ◽  
Vol 141B (2) ◽  
pp. 184-191 ◽  
Author(s):  
Faisal Idrees ◽  
Agnes Bloch-Zupan ◽  
Samantha L. Free ◽  
Daniela Vaideanu ◽  
Pamela J. Thompson ◽  
...  
Keyword(s):  
Rieger Syndrome

scholarly journals Cardiovascular anomaly in Rieger Syndrome, Heterogeneity or contiguity?

1998 ◽  
Vol 76 (4) ◽  
pp. 509-512 ◽  
Author(s):  
Isabella Mammi ◽  
Paolo De Giorgio ◽  
Maurizio Clementi ◽  
Romano Tenconi
Keyword(s):  
Rieger Syndrome ◽  
Cardiovascular Anomaly

scholarly journals Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome

2013 ◽  
Vol 33 (5) ◽  
pp. 360-363 ◽  
Author(s):  
Jae Won Yun ◽  
Hyun-Kyung Cho ◽  
Soo-Young Oh ◽  
Chang-Seok Ki ◽  
Changwon Kee
Keyword(s):  
Rieger Syndrome ◽  
Korean Family

scholarly journals A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings

2015 ◽  
Vol 29 (4) ◽  
pp. 249 ◽  
Author(s):  
Hee Jung Yang ◽  
You Kyung Lee ◽  
Choun-Ki Joo ◽  
Jung Il Moon ◽  
Jee Won Mok ◽  
...  
Keyword(s):  
Rieger Syndrome ◽  
Syndrome Report

scholarly journals Case report of the rare Peters’ anomaly complicated with Axenfeld-Rieger syndrome

Medicine ◽  
2022 ◽  
Vol 101 (2) ◽  
pp. e21213
Author(s):  
Yong Meng ◽  
Guohua Lu ◽  
Yang Xie ◽  
Xincheng Sun ◽  
Liqin Huang
Keyword(s):  
Case Report ◽  
Rieger Syndrome ◽  
Peters Anomaly

scholarly journals Dominant Negative Dimerization of a Mutant Homeodomain Protein in Axenfeld-Rieger Syndrome

2003 ◽  
Vol 23 (6) ◽  
pp. 1968-1982 ◽  
Author(s):  
Irfan Saadi ◽  
Adisa Kuburas ◽  
Jamison J. Engle ◽  
Andrew F. Russo
Keyword(s):  
Dominant Negative ◽  
Hill Coefficient ◽  
Homeodomain Protein ◽  
Yeast Two Hybrid ◽  
Autosomal Dominant Disorder ◽  
Rieger Syndrome ◽  
A Charge ◽  
Two Hybrid

ABSTRACT Axenfeld-Rieger syndrome is an autosomal-dominant disorder caused by mutations in the PITX2 homeodomain protein. We have studied the mechanism underlying the dominant negative K88E mutation, which occurs at position 50 of the homeodomain. By using yeast two-hybrid and in vitro pulldown assays, we have documented that PITX2a can form homodimers in the absence of DNA. Moreover, the K88E mutant had even stronger dimerization ability, primarily due to interactions involving the C-terminal region. Dimerization allowed cooperative binding of wild-type (WT) PITX2a to DNA containing tandem bicoid sites in a head-to-tail orientation (Hill coefficient, 1.73). In contrast, the WT-K88E heterodimer bound the tandem sites with greatly reduced cooperativity and decreased transactivation activity. To further explore the role of position 50 in PITX2a dimerization, we introduced a charge-conservative mutation of lysine to arginine (K88R). The K88R protein had greatly reduced binding to a TAATCC element and did not specifically bind any other TAATNN motif. Like K88E, K88R formed relatively stronger dimers with WT. As predicted by our model, the K88R protein acted in a dominant negative manner to suppress WT PITX2a activity. These results suggest that the position 50 residue in the PITX2 homeodomain plays an important role in both DNA binding and dimerization activities.

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