scholarly journals A novel missense mutation of FOXC1 in an Axenfeld–Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kaiming Li ◽  
Min Tang ◽  
Manhua Xu ◽  
Yinggui Yu
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Novel Mutation ◽  
Present Report ◽  
Anterior Segment ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Congenital Glaucoma ◽  
Rieger Syndrome ◽  
Sublingual Cyst

Abstract Background Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant hereditary disease characterized primarily by maldevelopment of the anterior segment of both eyes, accompanied by developmental glaucoma, and other congenital anomalies. FOXC1 and PITX2 genes play important roles in the development of ARS. Case presentation The present report describes a 7-year-old boy with iris dysplasia, displaced pupils, and congenital glaucoma in both eyes. The patient presented with a congenital atrial septal defect and sublingual cyst. The patient’s family has no clinical manifestations. Next generation sequencing identified a pathogenic heterozygous missense variant in FOXC1 gene (NM_001453:c. 246C>A, p. S82R) in the patient. Sanger sequencing confirmed this result, and this mutation was not detected in the other three family members. Conclusion To the best of our knowledge, the results of our study reveal a novel mutation in the FOXC1 gene associated with ARS.

A novel mutation of GATA4 (K300T) associated with familial atrial septal defect

Gene ◽  
2016 ◽  
Vol 575 (2) ◽  
pp. 473-477 ◽  
Author(s):  
Jia Chen ◽  
Bingyang Qi ◽  
Juan Zhao ◽  
Wei Liu ◽  
Ranhui Duan ◽  
...  
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Novel Mutation

scholarly journals Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations

2010 ◽  
Vol 2010 ◽  
pp. 1-6 ◽  
Author(s):  
Mukesh Tanwar ◽  
Tanuj Dada ◽  
Rima Dada
Keyword(s):  
Clinical Manifestations ◽  
Gene Mutations ◽  
Corneal Opacity ◽  
North India ◽  
Congenital Glaucoma ◽  
Causative Gene ◽  
Nasal Bridge ◽  
Rieger Syndrome ◽  
Cytochrome P4501b1 ◽  
Outflow Pathway

Developmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway. Thus, disorders that present with such dysfunction tend to be associated with glaucoma. Among them, Axenfeld-Rieger (ARS) malformation is a rare clinical entity with an estimated prevalence of one in every 200,000 individuals. The changes in eye morphogenesis in ARS are highly penetrant and are associated with 50% risk of development of glaucoma. Mutations in the cytochrome P4501B1 (CYP1B1) gene have been reported to be associated with primary congenital glaucoma and other forms of glaucoma and mutations in pituitary homeobox 2 (PITX2) gene have been identified in ARS in various studies. This case was negative forPITX2mutations and compound heterozygote forCYP1B1mutations. Clinical manifestations of this patient include bilateral elevated intraocular pressure (>40 mmHg) with increased corneal diameter (>14 mm) and corneal opacity. Patient also had iridocorneal adhesions, anteriorly displaced Schwalbe line, anterior insertion of iris, broad nasal bridge and protruding umbilicus. This is the first study from north India reportingCYP1B1mutations in Axenfeld-Rieger syndrome with bilateral buphthalmos and early onset glaucoma. Result of this study supports the role ofCYP1B1as a causative gene in ASD disorders and its role in oculogenesis.

scholarly journals Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1

2021 ◽  
Vol 12 ◽  
Author(s):  
Qiuming Hu ◽  
Huazhong Ma ◽  
Jiawei Shen ◽  
Zongming Zhuang ◽  
Jianqiang Li ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Test ◽  
Novel Mutation ◽  
Present Report ◽  
Hereditary Disease ◽  
Chinese Family ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Whole Exome

Background: Waardenburg Syndrome Type 1 (WS1) is a rare hereditary disease, which is usually caused by the mutations of PAX3 (paired box 3). Here, we reported a pedigree with WS1, which was caused by a novel mutation in PAX3.Case Report: In this present report, a 10-year-old boy and his twin sister from a Han Chinese family presented with iris pigmentary abnormality, synophrys, and broad and high nasal root. Their father presented premature whitening of the hair, but no iris pigmentary abnormality. Their aunts presented the same clinical characteristics with the twins and premature graying of hair. However, none of the patients reported hearing loss. The clinical diagnosis of the four patients from this pedigree was WS1. The whole exome sequencing (WES) revealed a novel mutation (c.959-5T>G) in the PAX3 gene, which could be responsible for the observed pathogenic of WS1 in this pedigree. The genetic test confirmed the diagnosis of WS1 in the four patients from the studied pedigree.Conclusion: This present study demonstrated that genetic test based on WES, an effective alternative to regular clinical examinations, helps diagnose WS1. The newly identified PAX3 gene mutation can expand the understanding of WS1.

A novel mutation of GATA4 in a familial atrial septal defect

2010 ◽  
Vol 411 (21-22) ◽  
pp. 1741-1745 ◽  
Author(s):  
Ying Chen ◽  
Jun Mao ◽  
Ying Sun ◽  
Qiang Zhang ◽  
Hong-Bo Cheng ◽  
...  
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Novel Mutation

scholarly journals Novel Mutation in MYH6 in 2 Unrelated Chinese Han Families With Familial Atrial Septal Defect

2019 ◽  
Vol 12 (11) ◽  
Author(s):  
Yu Xia ◽  
Shaoxian Chen ◽  
Yongchao Yang ◽  
Yueheng Wu ◽  
Shufang Huang ◽  
...  
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Novel Mutation ◽  
Chinese Han

scholarly journals The Ocular Neural Crest: Specification, Migration, and Then What?

2020 ◽  
Vol 8 ◽  
Author(s):  
Antionette L. Williams ◽  
Brenda L. Bohnsack
Keyword(s):  
Neural Crest ◽  
Cell Biology ◽  
Current Knowledge ◽  
Anterior Segment ◽  
Clinical Manifestations ◽  
Positional Information ◽  
Cell Types ◽  
Congenital Glaucoma ◽  
Ocular Development ◽  
Regenerative Therapies

During vertebrate embryonic development, a population of dorsal neural tube-derived stem cells, termed the neural crest (NC), undergo a series of morphogenetic changes and extensive migration to become a diverse array of cell types. Around the developing eye, this multipotent ocular NC cell population, called the periocular mesenchyme (POM), comprises migratory mesenchymal cells that eventually give rise to many of the elements in the anterior of the eye, such as the cornea, sclera, trabecular meshwork, and iris. Molecular cell biology and genetic analyses of congenital eye diseases have provided important information on the regulation of NC contributions to this area of the eye. Nevertheless, a complete understanding of the NC as a contributor to ocular development remains elusive. In addition, positional information during ocular NC migration and the molecular pathways that regulate end tissue differentiation have yet to be fully elucidated. Further, the clinical challenges of ocular diseases, such as Axenfeld-Rieger syndrome (ARS), Peters anomaly (PA) and primary congenital glaucoma (PCG), strongly suggest the need for better treatments. While several aspects of NC evolution have recently been reviewed, this discussion will consolidate the most recent current knowledge on the specification, migration, and contributions of the NC to ocular development, highlighting the anterior segment and the knowledge obtained from the clinical manifestations of its associated diseases. Ultimately, this knowledge can inform translational discoveries with potential for sorely needed regenerative therapies.

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis

Gene ◽  
2014 ◽  
Vol 534 (2) ◽  
pp. 320-323 ◽  
Author(s):  
Rong Xiang ◽  
Liang-Liang Fan ◽  
Hao Huang ◽  
Bei-Bei Cao ◽  
Xiang-Ping Li ◽  
...  
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Pulmonary Valve ◽  
Novel Mutation ◽  
Pulmonary Valve Stenosis

scholarly journals Axenfeld‐Rieger syndrome combined with a foveal anomaly in a three‐generation family: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Kinga Gołaszewska ◽  
Natalia Dub ◽  
Emil Saeed ◽  
Zofia Mariak ◽  
Joanna Konopińska
Keyword(s):  
Genetic Test ◽  
Wide Spectrum ◽  
Genetic Disorder ◽  
Anterior Segment ◽  
Case Series ◽  
Visual Field Loss ◽  
Congenital Glaucoma ◽  
Developmental Defects ◽  
Rieger Syndrome ◽  
Generation Family

Abstract Background Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant eye disorder that can also affect other organs of the human body. The condition is primarily characterized by the anterior segmental abnormalities of the eye. Here, we present an observational case series of a three-generation family with ARS and unexpected foveal anomaly. Case presentation A 33-year-old woman was admitted to an Ophthalmology Clinic in Bialystok for left eye congenital cataract surgery. The patient (proband) was diagnosed with visual deterioration, multiple defects of iris, corectopia, displacement of the Schwalbe’s line, and phenotypic characteristics of ARS. A perimetric examination indicated peripheral visual field loss and signs typical for glaucoma. Based on the phenotypic symptoms and genetic test, the patient was diagnosed with Axenfeld Rieger Syndrome. However, the optical coherence tomography of the macula showed foveal anomaly (absence of the physiological pit), which is not typically associated with this genetic disorder. The patient’s family history revealed that her two daughters were undergoing treatment for congenital glaucoma, and one of the daughters also had foveal anomaly the same as her mother. Interestingly, an examination of the patient’s mother showed typical phenotypic features of ARS such as a defect of the iris, posterior embryotoxon, and coloboma, as well as foveal anomaly. A genetic test confirmed PITX2 mutation in both, proband’s two daughters and mother. Conclusions This study highlights the occurrence of ARS with unusual ophthalmic features such as foveal anomaly (absence of the physiological pit) in a three-generation family. Although ARS is known to represent the developmental defects of the anterior segment of the eye, it is very important to perform fundus evaluation to identify associated posterior segment anomalies that may affect visual acuity. The presence of ocular defects not typically associated with ARS suggests a wide spectrum of mutations within PITX2 gene which are required to identify in order to determine genotype- phenotype correlation in ARS affected individuals.

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