简介：AIM:Tostudyclinicalfeaturesandgenemutationswithinthepaired-likehomeodomaintranscriptionfactor2(PITX2)geneinapedigreeofbilaterallimbaldermoids.METHODS:Completeeyeexaminationshavebeenperformedoneachindividualofthefamily.Exonsofpaired-likehomeodomaintranscriptionfactor2(PITX2)wereamplifiedbypolymerasechainreaction,sequenced,andcomparedwithareferencedatabase.RESULTS:Wedescribedthephenotype,clinicfindingsinafamilywithtwoaffectedmembers.Themassesoftheproband’seyeswereexcisedsurgicallydemonstratingadermoidcystbyhistopathologicalexamination.NomutationwasdetectedinthegenePITX2inthispedigree.CONCLUSION:Afamilyoflimbaldermoidcystwasreported.Inaddition,nopathogenicsequencevariationswerefoundinPITX2,indicatingthatthisphenotypeinthisfamilyisadistinctiveentity.

简介：Thedamageofhumancornealcellsencounterwiththeproblemofavailabilityofcornealcellsforreplacement.Limitationofthesourceofcornealcellshasbeenrealized.Anattemptofdevelopmentofcornealepithelial-likecellsfromthehumanskin-derivedprecursor(hSKPs)hasbeenmadeinthisstudy.Combinationofthreeessentialgrowthfactors:epidermalgrowthfactor(EGF),keratinocytegrowthfactor(KGF)andhepatocytegrowthfactor(HGF)coulddemonstratesuccessfullyinductionofhSKPstodifferentiationintocornealcells.Theinducedcellsexpressedtheappearanceofmarkersofcornealepithelialcellsasshownbythepresenceofkeratin3(K3)byantibodylabelandWesternblotassay.TheK3geneexpressionofinducedhSKPscellsasshownbyreversetranscription-polymerasechainreaction(RT-PCR)technologywasalsodemonstrated.ThepresenceofthesemarkersatbothgeneandproteinlevelscouldleadtoourconclusionthatthedirectionaltransdifferentiationofhSKPscellsintocornealepithelialcellswassuccessfullydoneunderthiscellinductionprotocol.Thefindingshowsanewlyavailablestemcellsourcecanbeobtainedfromeasilyavailableskin.Cellsfromautologoushumanskinmightbeusedforcornealdisordertreatmentinfutureclinicalapplication.