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A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes
American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-03, Vol.141B (2), p.184-191
Idrees, Faisal
Bloch-Zupan, Agnes
Free, Samantha L.
Vaideanu, Daniela
Thompson, Pamela J.
Ashley, Paul
Brice, Glen
Rutland, Paul
Bitner-Glindzicz, Maria
Khaw, Peng T.
Fraser, Scott
Sisodiya, Sanjay M.
Sowden, Jane C.
2006
Details
Autor(en) / Beteiligte
Idrees, Faisal
Bloch-Zupan, Agnes
Free, Samantha L.
Vaideanu, Daniela
Thompson, Pamela J.
Ashley, Paul
Brice, Glen
Rutland, Paul
Bitner-Glindzicz, Maria
Khaw, Peng T.
Fraser, Scott
Sisodiya, Sanjay M.
Sowden, Jane C.
Titel
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes
Ist Teil von
American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-03, Vol.141B (2), p.184-191
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2006
Link zum Volltext
Quelle
Wiley-Blackwell Full Collection
Beschreibungen/Notizen
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. © 2006 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4841
eISSN: 1552-485X
DOI: 10.1002/ajmg.b.30237
Titel-ID: cdi_crossref_primary_10_1002_ajmg_b_30237
Format
–
Schlagworte
Abnormalities, Multiple - genetics
,
Abnormalities, Multiple - pathology
,
Amino Acid Sequence
,
Biological and medical sciences
,
Brain - abnormalities
,
cerebellar vermis hypoplasia
,
cisterna magna
,
DNA Mutational Analysis
,
Eye Abnormalities
,
Family Health
,
Female
,
Genetics
,
glaucoma
,
Glaucoma and intraocular pressure
,
Homeobox Protein PITX2
,
Homeodomain Proteins - genetics
,
Humans
,
Life Sciences
,
Male
,
Malformations of the eye
,
Medical sciences
,
Molecular Sequence Data
,
Mutation, Missense
,
Ophthalmology
,
Pedigree
,
Phenotype
,
PITX2
,
Sequence Homology, Amino Acid
,
Syndrome
,
Tooth Abnormalities
,
tooth hypodontia
,
Transcription Factors - genetics
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