Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome

2016 ◽  
Vol 94 (7) ◽  
pp. e571-e579 ◽  
Author(s):  
Morteza Seifi ◽  
Tim Footz ◽  
Sherry A. M. Taylor ◽  
Ghada M. Elhady ◽  
Ebtesam M. Abdalla ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Rieger Syndrome ◽  
Pitx2 Gene

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

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 Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-10
Author(s):  
Liqin Huang ◽  
Yong Meng ◽  
Xiangming Guo
Keyword(s):  
Genomic Dna ◽  
Anterior Segment ◽  
Dominant Negative ◽  
Chinese Patients ◽  
Dominant Negative Effect ◽  
Sequencing Analysis ◽  
Coding Region ◽  
Direct Dna Sequencing ◽  
Rieger Syndrome ◽  
Pitx2 Gene

Purpose. The aims of this study were to examine novel mutations in PITX2 and FOXC1 in Chinese patients with anterior segment dysgenesis (ASD) and to compare the clinical presentations of these mutations with previously reported associated phenotypes. Methods. Twenty-six unrelated patients with different forms of ASD were enrolled from our paediatric and genetic eye clinic. The ocular manifestations of both eyes of each patient were recorded. Genomic DNA was prepared from venous leukocytes. All coding exons of PITX2 and FOXC1 were amplified by polymerase chain reaction (PCR) from genomic DNA and subjected to direct DNA sequencing. Analysis of mutations in control subjects was performed by heteroduplex single-strand conformation polymorphism (SSCP) analysis. Results. Sequence analysis of the PITX2 gene revealed four mutations, including c.475_476delCT (P.L159VfsX39), c.64C > T (P.Q22X), c.296delG (P.R99PfsX56), and c.206G > A (P.R69H). The first three mutations were found to be novel. The c.475_476delCT (P.L159VfsX39) mutation, located at the 3′ end of the PITX2-coding region, was identified in a Chinese Axenfeld-Rieger syndrome (ARS) patient who presented with an unusual severe phenotype of bilateral aniridia. The clinical characteristics, including the severity and manifestations of the patient’s phenotype, were compared with reported PITX2-associated aniridia phenotypes of ARS in the literature. Conclusions. These results expand the mutation spectrum of the PITX2 gene in patients with ARS. The PITX2 gene may be responsible for a significant portion of ARS with additional systemic defects in the Chinese population. This is the first reported case of a mutation at the 3′ end of the PITX2-coding region extending the phenotypic consequences to bilateral aniridia. The traits of ARS could display tremendous variability in severity and manifestations due to the dominant-negative effect of PITX2. Our results further emphasize the importance of careful clinical and genetic analysis in determining mutation-disease associations and may lead to a better understanding of the role of PITX2 in ocular development.

Novel Identification of a Four-base-pair Deletion Mutation in PITX2 in a Rieger Syndrome Family

2003 ◽  
Vol 82 (12) ◽  
pp. 1008-1012 ◽  
Author(s):  
Y. Wang ◽  
H. Zhao ◽  
X. Zhang ◽  
H. Feng
Keyword(s):  
Base Pair ◽  
Stop Codon ◽  
Critical Role ◽  
Premature Stop Codon ◽  
Chinese Family ◽  
Loss Of Function ◽  
Rieger Syndrome ◽  
Mutational Screening ◽  
Base Pair Deletion ◽  
Pitx2 Gene

Rieger syndrome is one of the most serious causes of tooth agenesis. Mutations in the PITX2, FOXC1, and PAX6 genes have been associated with Rieger syndrome. We have studied a three-generation Chinese family affected with Rieger syndrome and showing prominent dental abnormalities. Mutational screening and sequence analysis of the PITX2 gene revealed a previously unidentified four-base-pair deletion of nucleotides 717-720 in exon 5 in all affected members. The mutation causes a frame shift after Thr44, the 7th amino acid of the homeo-domain, and introduces a premature stop codon in the gene sequence. This deletion is the first unquestionable loss-of-function mutation, deleting all the functionally important parts of the protein. Our novel discovery indicates that the oligodontia and other phenotypes of Rieger syndrome observed in this family are due to this PITX2 mutation, and these data further support the critical role of PIXT2 in tooth morphogenesis.

scholarly journals Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Kuanshu Li ◽  
Liu Yang ◽  
Ying Liu ◽  
Ding Lin
Keyword(s):  
Genetic Counseling ◽  
Genetic Analysis ◽  
Gene Mutation ◽  
Genomic Dna ◽  
Gene Mutations ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Homozygous Mutation ◽  
Specific Therapy ◽  
Rieger Syndrome

Purpose. To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings.Methods. Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were found.Results. Through the ophthalmologic examinations, 8 subjects were diagnosed as ARS and 1 subject was normal. A homozygous mutation c.1139_1141dupGCG(p.Gly380_Ala381insGly) and a heterozygous mutation c.1359_1361dupCGG(p.Gly456_Gln457insGly) in FOXC1 were identified in all subjects. The mutation (c.-10-30T>C) was identified in PITX2 in subjects III-1 and III-3.Conclusions.We found novel gene mutations in a Chinese family with ARS, which provides us with a better understanding of the gene mutation spectrum of ARS and the assistance for the genetic counseling and gene-specific therapy in the future.

scholarly journals Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome

2020 ◽  
Vol 8 (7) ◽  
Author(s):  
Valeria Lo Faro ◽  
Sorath N. Siddiqui ◽  
Muhammad I. Khan ◽  
Cristina Villanueva‐Mendoza ◽  
Vianney Cortés‐González ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Mexican Families ◽  
Rieger Syndrome ◽  
Pitx2 Gene

scholarly journals Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome

2014 ◽  
Vol 15 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Hou-Fa Yin ◽  
Xiao-Yun Fang ◽  
Chong-Fei Jin ◽  
Jin-Fu Yin ◽  
Jin-Yu Li ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Chinese Family ◽  
Rieger Syndrome ◽  
Pitx2 Gene

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

2004 ◽  
Vol 25 (1) ◽  
pp. 57-62 ◽  
Author(s):  
Brian P. Brooks ◽  
Sayoko E. Moroi ◽  
Catherine A. Downs ◽  
Shannon Wiltse ◽  
Mohammad I. Othman ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Rieger Syndrome ◽  
Pitx2 Gene

Autosomal dominant iris hypoplasia is caused by a mutation in the rieger syndrome (rieg/pitx2) gene

1998 ◽  
Vol 125 (1) ◽  
pp. 98-100 ◽  
Author(s):  
Wallace L.M. Alward ◽  
Elena V. Semina ◽  
Jeffrey W. Kalenak ◽  
Elise Héon ◽  
Bhavna P. Sheth ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Rieger Syndrome ◽  
Pitx2 Gene
Sign in / Sign up

Export Citation Format

Share Document