The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature

Brooks, John K; Coccaro, Peter J.; Zarbin, Marco A.

doi:10.1016/0030-4220(89)90161-8

Cited by 32 publications

(25 citation statements)

References 23 publications

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“…Some features previously reported in ARS were not apparent in our family: conical teeth [Langdon, 1970;Childers and Wright, 1986], scoop shape appearance of maxillary central incisors [Brooks et al, 1989], hypoplastic teeth [Langdon, 1970], and hypoplasia (enamel pitting) [Drum et al, 1985]. Other aspects of the dental phenotype appear unique to the PITX2 mutation: the tapered 21 (III:2), the notched 31 (IV:1), the rounded molars, and macrodont 36 (III2:).…”

Section: Discussionmentioning

confidence: 59%

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

Idrees

Bloch‐Zupan

Free

et al. 2006

American J of Med Genetics Pt B

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Axenfeld-Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the PITX2 homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutation in the PITX2 homeodomain, which is associated with brain abnormalities. One patient had a small sella turcica likely to reflect hypoplasia of the pituitary gland and consistent with the critical role identified for Pitx2 in pituitary development in mice. Two patients had an enlarged cisterna magna, one with a malformed cerebellum, and two had executive skills deficits one in isolation and one in association with a below average intellectual capacity. The mutation caused a typical ARS ocular phenotype. All affected had iris hypoplasia, anterior iris to corneal adhesions, and corectopia. The ocular phenotype varied significantly in severity and showed some asymmetry. All affected also had redundant peri-umbilical skin, a hypoplastic maxilla, microdontia, and hypodontia missing between 20 and 27 teeth with an unusual pattern of tooth loss. Dental phenotypes were documented as they are often poorly characterized in ARS patients. All affected individuals showed an absence of first permanent molars with variable absence of other rarely absent teeth: the permanent upper central incisors, maxillary and mandibular first and second molars, and the mandibular canines. Based on the distinctive dental anomalies, we suggest that the dental phenotype can assist in predicting the presence of a PITX2 mutation and the possibility of brain abnormalities.

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Section: Discussionmentioning

confidence: 59%

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

Idrees

Bloch‐Zupan

Free

et al. 2006

American J of Med Genetics Pt B

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“…In the study of Ozeki et al, accompanying systemic anomalies included dental anomalies (43%), facial anomalies (24%), and Alagille syndrome (14%) in the 21 patients with ARS [7]. Anal stenosis and imperforate anus are also the defects associated with ARS [8]. Our patient had anteriorly displaced anus, another anal anomaly which has not been reported with ARS before.…”

Section: Discussionmentioning

confidence: 47%

Axenfeld–Rieger syndrome and pseudotruncus arteriosus

Paç¹,

Çağdaş²,

Demir

2008

International Journal of Cardiology

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“…In some cases, other symptomatic features have been described, such as cleft palate and cardiovascular anomalies (64). GH deficiency (68, 69) and short stature (70) were even reported in several cases, with an enlarged sella turcica and combined GH/TSH and GH/ACTH deficits (71). However, no genetic links have been definitely found to exist between the Pitx2 mutations occurring in ARS and pituitary hormone deficiency.…”

Section: Transcriptional Synergism Between Transcription Factorsmentioning

confidence: 99%

Pituitary Transcription Factors: From Congenital Deficiencies to Gene Therapy

Quentien

Barlier

Franc

et al. 2006

J Neuroendocrinology

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Despite the existence of interspecies phenotypic variability, animal models have yielded valuable insights into human pituitary diseases. Studies on Snell and Jackson mice known to have growth hormone, prolactin and thyroid‐stimulating hormone deficiencies involving the hypoplastic pituitary gland have led to identifying alterations of the pituitary specific POU homeodomain Pit‐1 transcription factor gene. The human phenotype associated with rare mutations in this gene was found to be similar to that of these mice mutants. Terminal differentiation of lactotroph cells and direct regulation of the prolactin gene both require interactions between Pit‐1 and cell type specific partners, including panpituitary transcriptional regulators such as Pitx1 and Pitx2. Synergistic activation of the prolactin promoter by Pitx factors and Pit‐1 is involved not only in basal condition, but also in responsiveness to forskolin, thyrotrophin‐releasing‐hormone and epidermal growth factor. In corticotroph cells, Pitx1 interacts with Tpit. Tpit mutations have turned out to be the main molecular cause of neonatal isolated adrenocorticotrophin deficiency. This finding supports the idea that Tpit plays an essential role in the differentiation of the pro‐opiomelanocortin pituitary lineage. The effects of Pit‐1 are not restricted to hormone gene regulation because this factor also contributes to cell division and protects the cell from programmed cell death. Lentiviral vectors expressing a Pit‐1 dominant negative mutant induced time‐ and dose‐dependent cell death in somatotroph and lactotroph adenomas in vitro. Gene transfer by lentiviral vectors should provide a promising step towards developing an efficient specific therapeutic approach by which a gene therapy programme for treating human pituitary adenomas could be based.

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The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature

Cited by 32 publications

References 23 publications

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

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

Axenfeld–Rieger syndrome and pseudotruncus arteriosus

Pituitary Transcription Factors: From Congenital Deficiencies to Gene Therapy

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