SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Abstract Text:

Stephanie A Hagstrom,Gayle J T Pauer,Janet Reid,Ellen Simpson,Sue Crowe,Irene H Maumenee,Elias I Traboulsi,

The SOX2 transcription factor is expressed early in the embryonic stem cells of the blastocyst and later in the neural stem cells. It is a member of the SOX family of proteins that carry a DNA-binding high-mobility group domain and additional domains that regulate embryonic development and cell fate determinations. We surveyed 93 patients with severe eye malformations for mutations in SOX2. Here, we report a novel nonsense mutation in one female patient with bilateral clinical anophthalmia, absence of all optic pathways, and other neurological abnormalities. The mutation, Q155X, creates a premature termination codon early in the transcriptional activation domain and is likely to be a null allele. Our data show that mutations in SOX2 can cause not only anophthalmia, but also aplasia of the optic nerve, chiasm and optic tract, as well as modest bilateral sensorineural hearing loss, and global developmental delay, underscoring the importance of SOX2 in early human eye and brain development.

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Publishing Authors By Initials

SA Hagstrom,GJ Pauer,J Reid,E Simpson,S Crowe,IH Maumenee,EI Traboulsi,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: American journal of medical genetics. Part A

VOLUME: 138A

Page Numbers: 95-8

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4825

DAY: 1

MONTH: Oct

YEAR: 2005

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101235741

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: genetics

Chemical & Substance for Abstract: SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Information

Substance Name: Transcription Factors

Registry Number: 0

Grant and Affiliation Information for SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

AFFILIATION: Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA. hagstrs@ccf.org

Country: United States

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Am J Med Genet A

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies Related Publications

• An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.
• Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.
• CNGA3 mutations in two United Arab Emirates families with achromatopsia.
• Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.
• Descemet stripping automated endothelial keratoplasty in a 2-year-old child.
• Genetic eye diseases in Lebanon.
• Giant intracavernous carotid aneurysm presenting as isolated sixth nerve palsy in an infant.
• Hypermetropia and esotropia in myotonic dystrophy.
• Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.
• Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly - broadening the clinical spectrum of midline defects.
• Practice guidelines for the patient with suspected ocular nonretinal genetic disorder.
• SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
• Syndrome of myelinated retinal nerve fibers, myopia, and amblyopia: a review.
• The value of keratometry and central corneal thickness measurements in the clinical diagnosis of marfan syndrome.
• Update on the morning glory disc anomaly.
• Use of Tegaderm for postoperative eye dressing in children.