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.
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.
Authors: K Xia; L Wu; X Liu; X Xi; D Liang; D Zheng; F Cai; Q Pan; Z Long; H Dai; Z Hu; B Tang; Z Zhang; J Xia Journal: J Med Genet Date: 2004-12 Impact factor: 6.318
Authors: A Arikawa; S Yoshida; H Yoshikawa; K Ishikawa; Y Yamaji; R-I Arita; A Ueno; T Ishibashi Journal: Eye (Lond) Date: 2009-05-22 Impact factor: 3.775
Authors: R Perveen; I C Lloyd; J Clayton-Smith; A Churchill; V van Heyningen; I Hanson; D Taylor; C McKeown; M Super; B Kerr; R Winter; G C Black Journal: Invest Ophthalmol Vis Sci Date: 2000-08 Impact factor: 4.799