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Studies of a pedigree with limbal dermoid cyst.

ABSTRACT:

Aim

To study clinical features and gene mutations within the paired-like homeodomain transcription factor 2 (PITX2) gene in a pedigree of bilateral limbal dermoids.

Methods

Complete eye examinations have been performed on each individual of the family. Exons of paired-like homeodomain transcription factor 2 (PITX2) were amplified by polymerase chain reaction, sequenced, and compared with a reference database.

Results

We described the phenotype, clinic findings in a family with two affected members. The masses of the proband's eyes were excised surgically demonstrating a dermoid cyst by histopathological examination. No mutation was detected in the gene PITX2 in this pedigree.

Conclusion

A family of limbal dermoid cyst was reported. In addition, no pathogenic sequence variations were found in PITX2, indicating that this phenotype in this family is a distinctive entity.

SUBMITTER: Zhu J

PROVIDER: S-EPMC3484697 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Studies of a pedigree with limbal dermoid cyst.

Zhu Jing J Cheng Hong-Bo HB Fan Ning N Liu Chun-Ming CM Yu Wen-Han WH Chen Xiao-Ming XM Liu Xu-Yang XY

International journal of ophthalmology 20121018 5

<h4>Aim</h4>To study clinical features and gene mutations within the paired-like homeodomain transcription factor 2 (PITX2) gene in a pedigree of bilateral limbal dermoids.<h4>Methods</h4>Complete eye examinations have been performed on each individual of the family. Exons of paired-like homeodomain transcription factor 2 (PITX2) were amplified by polymerase chain reaction, sequenced, and compared with a reference database.<h4>Results</h4>We described the phenotype, clinic findings in a family w ...[more]

PMID: 23166879

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