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Abstract #109172 Published in IGR 24-1
Digenic Inheritance in Juvenile Open-Angle Glaucoma
Somarajan BI; Gupta S; Mahalingam K; Azmira K; Gupta VJournal of pediatric genetics 2023; 12: 150-154
Juvenile open-angle glaucoma (JOAG) is an uncommon subset of primary glaucoma with an onset before the age of 40 years. In this case report, we describe the cosegregation of , p.Pro370Leu and , p.Pro432Leu mutations in a family with JOAG. The family with autosomal dominant JOAG belonged to Northern India. The samples of proband and her parents were evaluated by whole exome sequencing. Sanger sequencing was conducted in all the study participants to check the mutations identified. Both and mutations were found to cosegregate in affected individuals leading to a severe JOAG phenotype, thereby suggesting a digenic inheritance of with in this family.
Department of Ophthalmology, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
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