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Novel SOX2Mutation Associated With Ocular Coloboma in a Chinese Family

Novel SOX2Mutation Associated With Ocular Coloboma in a Chinese Family OPHTHALMIC MOLECULAR GENETICS Novel SOX2 Mutation Associated With Ocular Coloboma in a Chinese Family Panfeng Wang, MD, PhD; Xiaoling Liang, MD, PhD; Junhui Yi, MD, PhD; Qingjiong Zhang, MD, PhD Objectives: To report a novel SOX2 (OMIM 184429) cluding brain arachnoid cyst, microcornea, retrobulbar mutation in a Chinese family and to describe its ocular colobomatous orbital cyst, and penoscrotal hypospa- and extraocular clinical features. dias. This mutation was not detected in the unaffected mother and 103 unaffected control individuals. Methods: Ocular and systemic examinations were per- formed, and genomic DNA was prepared from periph- Conclusions: Mutation in SOX2 is associated with typi- eral leukocytes. The coding exons and the adjacent cal ocular coloboma and probably other anomalies in this intronic sequence of SOX2 were analyzed by cycle Chinese family. Arachnoid cyst has not been reported in sequencing. individuals with the SOX2 mutation. Results: A novel heterozygous c.695CA (p.Thr232Asn) Clinical Relevance: The results remind us that ocular mutation in SOX2 was identified in a Chinese family in coloboma may be accompanied by arachnoid cyst and may which both the father and the son had iris and chorio- be associated with SOX2 mutation, which will be help- retinal uveal colobomas. In http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Novel SOX2Mutation Associated With Ocular Coloboma in a Chinese Family

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References (42)

Publisher
American Medical Association
Copyright
Copyright 2008 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/archopht.126.5.709
pmid
18474784
Publisher site
See Article on Publisher Site

Abstract

OPHTHALMIC MOLECULAR GENETICS Novel SOX2 Mutation Associated With Ocular Coloboma in a Chinese Family Panfeng Wang, MD, PhD; Xiaoling Liang, MD, PhD; Junhui Yi, MD, PhD; Qingjiong Zhang, MD, PhD Objectives: To report a novel SOX2 (OMIM 184429) cluding brain arachnoid cyst, microcornea, retrobulbar mutation in a Chinese family and to describe its ocular colobomatous orbital cyst, and penoscrotal hypospa- and extraocular clinical features. dias. This mutation was not detected in the unaffected mother and 103 unaffected control individuals. Methods: Ocular and systemic examinations were per- formed, and genomic DNA was prepared from periph- Conclusions: Mutation in SOX2 is associated with typi- eral leukocytes. The coding exons and the adjacent cal ocular coloboma and probably other anomalies in this intronic sequence of SOX2 were analyzed by cycle Chinese family. Arachnoid cyst has not been reported in sequencing. individuals with the SOX2 mutation. Results: A novel heterozygous c.695CA (p.Thr232Asn) Clinical Relevance: The results remind us that ocular mutation in SOX2 was identified in a Chinese family in coloboma may be accompanied by arachnoid cyst and may which both the father and the son had iris and chorio- be associated with SOX2 mutation, which will be help- retinal uveal colobomas. In

Journal

JAMA Ophthalmology – American Medical Association

Published: May 1, 2008

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