Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus.

摘要: Department ofBiophysics, All India Institute of Medical Sciences, New Delhi, IndiaPurpose: To look for segregation Visual System Homeobox 1 ( VSX1) mutations in family members a patient withkeratoconus.Methods: Our initial molecular genetic studies conducted to identify the role VSX1 causation keratoconus hadidentified novel mutation one patient. He later presented clinic affected with vernal kerato conjunctivitis (VKC)accompanied by his brother, also similarly affected. were called and detailed clinical evaluationswere undertaken. DNA from blood samples all was amplified using primers specific andanalyzed direct sequencing members. Protein modeling studieswere done assess effect on protein structure function.Results: Clinical examination revealed bilateral VKC proband brother. Oneof sisters had without parents another sister normal. Molecular analysis identifiedthe Q175H brother mother who neither nor but only theVSX1 sequence change.Conclusions: The may be pathogenic variant incomplete penetrance. modelingstudies show that affects binding properties protein. This exhibiting lowpenetrance require presence some modifier genes or environmental factors disease presentation. mayhave an important pathogenesis which needs further investigation.