RGD Reference Report - Mutations in SOX2 cause anophthalmia. - Rat Genome Database

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Mutations in SOX2 cause anophthalmia.

Authors: Fantes, J  Ragge, NK  Lynch, SA  McGill, NI  Collin, JR  Howard-Peebles, PN  Hayward, C  Vivian, AJ  Williamson, K  Van Heyningen, V  FitzPatrick, DR 
Citation: Fantes J, etal., Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3.
RGD ID: 1599088
Pubmed: PMID:12612584   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1120   (Journal Full-text)

A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Anophthalmia  IAGP 1599088DNA:nonsense mutations: :multipleRGD 
Anophthalmia  ISOSOX2 (Homo sapiens)1599088; 1599088DNA:nonsense mutations: :multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Sox2  (SRY-box transcription factor 2)

Genes (Mus musculus)
Sox2  (SRY (sex determining region Y)-box 2)

Genes (Homo sapiens)
SOX2  (SRY-box transcription factor 2)


Additional Information