title: Novel SOX2 partner-factor domain mutation in a four-generation family.
abstract: Anophthalmia (no eye), microphthalmia (small eye) and associated ocular developmental anomalies cause significant visual handicap. In most cases the underlying genetic cause is unknown, but mutations in some genes, such as SOX2, cause ocular developmental defects, particularly anophthalmia, in a subset of patients. Here, we describe a four-generation family with a p.Asp123Gly mutation in the highly conserved partner-factor interaction region of the SOX2 protein, which is important for cell-specific actions of SOX2. The proband in this family has bilateral anophthalmia and several other family members have milder ocular phenotypes, including typical optic fissure coloboma. Expression studies indicate that Sox2 is expressed in the eye at the site of closure of the optic fissure during development. The SOX2 mutation in this family implicates the partner-factor interaction region of SOX2 in contributing to the specificity of SOX2 action in optic fissure closure. Our findings indicate that investigation of SOX2 in a broad range of eye anomaly patients aids in the determination of particular functions of SOX2 in development.
authors.affiliation: The Children's Hospital at Westmead, Children's Medical Research Institute and Save Sight Institute, Sydney, NSW, Australia.
authors.forename: Marija
authors.initials: M
authors.lastname: Mihelec
authors.forename: Peter
authors.initials: P
authors.lastname: Abraham
authors.forename: Kate
authors.initials: K
authors.lastname: Gibson
authors.forename: Renata
authors.initials: R
authors.lastname: Krowka
authors.forename: Rachel
authors.initials: R
authors.lastname: Susman
authors.forename: Rebecca
authors.initials: R
authors.lastname: Storen
authors.forename: Yongjuan
authors.initials: Y
authors.lastname: Chen
authors.forename: Jenny
authors.initials: J
authors.lastname: Donald
authors.forename: Patrick P L
authors.initials: PP
authors.lastname: Tam
authors.forename: John R
authors.initials: JR
authors.lastname: Grigg
authors.forename: Maree
authors.initials: M
authors.lastname: Flaherty
authors.forename: Glen A
authors.initials: GA
authors.lastname: Gole
authors.forename: Robyn V
authors.initials: RV
authors.lastname: Jamieson
mesh_terms: D000853:Anophthalmos / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D055748:SOXB1 Transcription Factors / Q000235:genetics*
chemical_list: D055748:SOXB1 Transcription Factors