A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. 2009

Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
Ulucanlar Eye Research Hospital, Ankara, Turkey. niluferberker@gmail.com

OBJECTIVE To test the association of genes involved in anterior segment development in a family with autosomal dominantly inherited Peters' anomaly (PA) with a unique ocular phenotype. METHODS Six members of a five-generation family with PA were extensively phenotyped and linkage analysis of candidate genes, namely, PAX6, PITX2, FOXC1, CYP1B1 and MAF, was performed. RESULTS The complete pedigree consisted of 38 members, 19 of whom were affected. The six probands examined had bilateral microcornea, corneal opacity, iridocorneal adhesions, nystagmus and strabismus, but cataract, keratolenticular adhesions, glaucoma and posterior embryotoxon were absent. PAX6 gene mutations had been previously excluded in one of the affected members. DNA markers for candidate genes CYP1B1 on 2p22, PITX2 on 4q25, PAX6 on 11p13, MAF on 16q23 and FOXC1 on 6p25 were genotyped. Highly negative lod scores were obtained for all markers. CONCLUSIONS The exclusion of these genes as likely candidates supports the hypothesis that the ocular phenotype associated with PA segregating in this family is a distinct, new, autosomal dominant entity in the anterior segment dysgenesis spectrum.

UI MeSH Term Description Entries
D007499 Iris Diseases Diseases, dysfunctions, or disorders of or located in the iris. Disease, Iris,Diseases, Iris,Iris Disease
D008297 Male Males
D009759 Nystagmus, Pathologic Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272) Convergence Nystagmus,Horizontal Nystagmus,Jerk Nystagmus,Pendular Nystagmus,Periodic Alternating Nystagmus,Rotary Nystagmus,See-Saw Nystagmus,Vertical Nystagmus,Conjugate Nystagmus,Dissociated Nystagmus,Fatigable Positional Nystagmus,Multidirectional Nystagmus,Non-Fatigable Positional Nystagmus,Permanent Nystagmus,Rebound Nystagmus,Retraction Nystagmus,Rotational Nystagmus,Spontaneous Ocular Nystagmus,Symptomatic Nystagmus,Temporary Nystagmus,Unidirectional Nystagmus,Non Fatigable Positional Nystagmus,Nystagmus, Conjugate,Nystagmus, Convergence,Nystagmus, Dissociated,Nystagmus, Fatigable Positional,Nystagmus, Horizontal,Nystagmus, Jerk,Nystagmus, Multidirectional,Nystagmus, Non-Fatigable Positional,Nystagmus, Pendular,Nystagmus, Periodic Alternating,Nystagmus, Permanent,Nystagmus, Rebound,Nystagmus, Retraction,Nystagmus, Rotary,Nystagmus, Rotational,Nystagmus, See-Saw,Nystagmus, Spontaneous Ocular,Nystagmus, Symptomatic,Nystagmus, Temporary,Nystagmus, Unidirectional,Nystagmus, Vertical,Ocular Nystagmus, Spontaneous,Pathologic Nystagmus,Positional Nystagmus, Non-Fatigable,See Saw Nystagmus
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D012097 Repressor Proteins Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release. Repressor Molecules,Transcriptional Silencing Factors,Proteins, Repressor,Silencing Factors, Transcriptional
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003316 Corneal Diseases Diseases of the cornea. Corneal Disease,Disease, Corneal,Diseases, Corneal
D003318 Corneal Opacity Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque. Leukoma,Corneal Opacities,Leukomas,Opacities, Corneal,Opacity, Corneal

Related Publications

Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
January 2008, International ophthalmology clinics,
Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
March 2011, European journal of human genetics : EJHG,
Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
February 2018, The Journal of veterinary medical science,
Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
December 2004, Ophthalmic genetics,
Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
July 2013, Veterinary ophthalmology,
Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
January 1996, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde,
Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
January 1982, American journal of ophthalmology,
Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
April 1999, Clinical genetics,
Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
June 1965, Archives of ophthalmology (Chicago, Ill. : 1960),
Nilufer Berker, and Yasemin Alanay, and Ufuk Elgin, and Bilge Volkan-Salanci, and Tulay Simsek, and Nurten Akarsu, and Mehmet Alikasifoglu
August 2020, Orphanet journal of rare diseases,
Copied contents to your clipboard!