| Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. | |
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MedLine Citation:
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PMID: 16892407 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The clinical combination of anophthalmia/microphthalmia and esophageal atresia was first recognized in 1988 as a distinct variable multi-system malformation syndrome and since then at least 17 cases of the disease have been described, all of them sporadic in occurrence. We report a heterozygous SOX2 gene mutation underlying the syndrome of anophthalmia/microphthalmia-esophageal atresia and demonstrate that this entity can be associated to considerable clinical variability as shown by the discordant ocular phenotype observed in monozygotic twin brothers carrying an SOX2 deletion. This is the first report describing a strikingly discordant eye phenotype in monozygotic twins with the condition, with one of our patients being the first reported individual carrying an SOX2 lesion associated with unilateral eye defect. We discuss the probable sources for this remarkable phenotypic heterogeneity of the anophthalmia/microphthalmia syndrome in individuals with an identical genetic constitution. |
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Authors:
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Juan Carlos Zenteno; Hector J Perez-Cano; Monica Aguinaga |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Twin Study |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 140 ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2006 Sep |
Date Detail:
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Created Date: 2006-08-24 Completed Date: 2006-10-24 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1899-903 Citation Subset: IM |
Affiliation:
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Department of Genetics, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico. jczenteno@salud.gob.mx |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Anophthalmos
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diagnosis*,
genetics* Esophageal Atresia / diagnosis*, genetics* Gene Deletion HMGB Proteins / genetics* Humans Infant Male Phenotype SOXB1 Transcription Factors Syndrome Transcription Factors / genetics* Twins, Monozygotic |
| Chemical | |
Reg. No./Substance:
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0/HMGB Proteins; 0/SOX2 protein, human; 0/SOXB1 Transcription Factors; 0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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