A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome

Hassed, Susan J.; Li, Shibo; Xu, Weihong; Taylor, Ashley C.

doi:10.1159/000454963

Cited by 9 publications

(6 citation statements)

References 8 publications

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“…While Pitx2 and Foxc1 are typically affiliated with ARS and Cyp1b1 is associated with PCG, mutations in these genes have been linked to rare cases of PA. Notably, the underlying molecular pathogenesis of the mutations in these genes that lead to PA versus their more commonly associated congenital diseases is not well understood ( Honkanen et al, 2003 ; Weisschuh et al, 2008 ; Berker et al, 2009 ; Arikawa et al, 2010 ; Gage et al, 2014 ; Hassed et al, 2017 ).…”

Section: Ocular Neural Crest Derivatives: Lessons From Rare Ocular DImentioning

confidence: 99%

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

Williams

Bohnsack

2020

Front. Cell Dev. Biol.

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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.

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Section: Ocular Neural Crest Derivatives: Lessons From Rare Ocular DImentioning

confidence: 99%

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

Williams

Bohnsack

2020

Front. Cell Dev. Biol.

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“…In this case, a known pathogenic mutation NM_153427.2:c.272G > A was detected on the PITX2 gene; and an unknown mutation NM_ 001453.2:c.1063C > T was detected on FOXC1 gene. In PITX2 gene, NM_153427.2;c.272G > A; p.Arg91Gln; EX5E;Het: missense mutation has been reported in relevant literatures in patients [19,20]. SIFT software was used to predict its effect on the protein function, and the result was defined as "damaging".…”

Section: Discussionmentioning

confidence: 99%

The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld–Rieger syndrome patient with small cornea: a case report

et al. 2020

BMC Ophthalmol

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Background: Axenfeld-Rieger syndrome (ARS) is a congenital disease with a series of developmental abnormalities, and no case of ARS with cataract and small cornea has been reported in previous studies. In the present report, we aimed to describe the diagnosis and phacoemulsification of an ARS patient with small cornea. Case presentation: A 58-year-old Han Chinese male patient who was referred to Eye Center of the Second Affiliated Hospital of Zhejiang University Medical College was diagnosed with ARS. Systemic and ophthalmic examination and genetic testing were performed. The slit-lamp microscopic examination of anterior segment showed obvious nuclear cataract, iris lesions, and the abnormal cornea of both eyes with small transversal and longitudinal diameters. ARS with bilateral complicated cataract and small cornea was diagnosed. Microincisionphacoemulsification in combination with intraocular lens implantation was performed on his left eye. After successful surgery of his left eye, the best-corrected visual acuity (BCVA) was obviously improved from 2 to 0.5 (LogMAR). A transient elevation of intraocular pressure (IOP) was controlled with medication. Conclusions: Through genetic testing, a known pathogenic mutation NM_153427.2:c.272G > A was detected on the PITX2 gene; and an unknown mutation NM_001453.2:c.1063C > T was detected on FOXC1 gene. For the ARS patient with complicated cataract, the visual acuity was increased by phacoemulsificasion in combination with microincision.

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“…Pitx2, a member of homeobox genes, is expressed in the stomodeum at E8, Rathke's pouch at E10.5 and pituitary anterior and intermediate lobes at E12.5. In humans, Pitx2 mutations are associated with Axenfeld-Rieger syndrome, which is characterized by anomalies in the ocular anterior compartment together with craniofacial dysmorphia, dental, cardiac, and umbilical anomalies [81].…”

Section: Axenfeld-rieger Syndromementioning

confidence: 99%

Congenital Hypopituitarism: Various Genes, Various Phenotypes

et al. 2019

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The ontogenesis and development of the pituitary gland is a highly complex process that depends on a cascade of transcription factors and signaling molecules. Spontaneous mutations and transgenic murine models have demonstrated a role for many of these factors, including HESX1, PROP1, PIT1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, SHH, GLI2, and FGF8 in the etiology of congenital hypopituitarism. Genetic mutations in any of these factors can lead to congenital hypopituitarism, which is characterized by the deficiency in one or more pituitary hormones. The phenotype can be highly variable, consisting of isolated hypopituitarism or more complex disorders. The same phenotype can be attributed to different gene mutations; while a given gene mutation can induce different phenotypes. This review highlights the genetic variations that lead to congenital hypopituitarism and their associated defects. The overall incidence of mutations in known transcription factors in patients with hypopituitarism is low; therefore many gene mutations or even gene- epigenetic interactions have to be unraveled in the future to explain the vast majority of still unclear cases of congenital hypopituitarism.

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A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome

Cited by 9 publications

References 8 publications

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

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

The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld–Rieger syndrome patient with small cornea: a case report

Congenital Hypopituitarism: Various Genes, Various Phenotypes

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