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ONLINE MUTATION REPORT
Mutation in PITX2 is associated with ring dermoid of the cornea
1 National Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, China
2 Xiangya 2nd Hospital, Central South University
3 Xiangya Hospital, Central South University
Correspondence to:
Correspondence to:
Dr K Xia
National Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, China; nlmglcy@xysm.net
Abbreviations: RDC, ring dermoid of the cornea
Keywords: PITX2; ring dermoid of cornea; wnt; chromosome 4
| The first 150 words of the full text of this article appear below. |
Ring dermoid of the cornea (RDC, MIM180550) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. The genetic basis of RDC is unknown. We report linkage of chromosome 4q24-q26 to RDC and identification of a missense mutation in PITX2 in 17 disease affected individuals but not in eight genetically related normal individuals in a large Chinese family.
METHODS
A large Chinese family with 17 individuals affected by the RDC was identified (figs 1 and 2
). All patients were diagnosed by the same physician (XHX). Informed written consent for blood sample collection was obtained from all participants.
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Figure 1 Eyes affected by ring dermoid of the cornea (RDC) in two patients, II-2 (upper panel) and IV-3 (lower panel). Yellow-white tumour-like apophyses are visible on the corneal border of both eyes. The apophyses are diffuse in the superficial layer of the cornea and conjunctiva. The corneal | |||||||||
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