Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet 1998 Jul;7(7):1113-7
Date
06/09/1998Pubmed ID
9618168DOI
10.1093/hmg/7.7.1113Scopus ID
2-s2.0-0031802075 (requires institutional sign-in at Scopus site) 118 CitationsAbstract
Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocular structures. ARS patients present with iris hypoplasia, a prominent Schwalbe line, adhesions between the iris stroma and the iridocorneal angle and increased intraocular pressure. IGDS is characterized by iris hypoplasia, goniodysgenesis and increased intraocular pressure. Each syndrome also presents with non-ocular features including maxillary hypoplasia, micro and anodontia, redundant periumbilical skin, hypospadius (in males), and each has been genetically linked to chromosome 4q25. RIEG1 , the gene responsible for the 4q25 ARS phenotype, recently has been cloned. RIEG1 encodes a novel member of the bicoid class of homeobox proteins known to be active as transcription factors. Mutational analysis has previously detected several mutations in this gene in ARS individuals. We have now detected a mutation in RIEG1 which segregates with the disease phenotype in a family with IGDS. This mutation is a G-->A transition altering an arginine residue to a histidine in a highly conserved location in the second helix of the homeobox of RIEG1. This mutation indicates that IGDS and ARS are allelic variants of the same disorder. This wide variability in clinical consequences of mutations at the RIEG1 4q25 locus implicates the RIEG gene broadly in ocular and craniofacial disorders.
Author List
Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MAAuthor
Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Amino Acid Sequence
Anterior Chamber
Child
DNA Mutational Analysis
Female
Genes, Dominant
Homeodomain Proteins
Humans
Iris
Male
Molecular Sequence Data
Nuclear Proteins
Paired Box Transcription Factors
Point Mutation
Polymorphism, Single-Stranded Conformational
Syndrome
Transcription Factors