Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

TY - JOUR

T1 - Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

AU - Tümer, Zeynep

AU - Bach-Holm, Daniella

PY - 2009/12

Y1 - 2009/12

N2 - Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations.

AB - Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations.

KW - Abnormalities, Multiple

KW - Animals

KW - Anterior Eye Segment

KW - Forkhead Transcription Factors

KW - Homeodomain Proteins

KW - Humans

KW - Mutation

KW - Syndrome

KW - Transcription Factors

U2 - 10.1038/ejhg.2009.93

DO - 10.1038/ejhg.2009.93

M3 - Journal article

C2 - 19513095

SN - 1018-4813

VL - 17

SP - 1527

EP - 1539

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 12

ER -