Digenic Inheritance in Juvenile Open-Angle Glaucoma

Abstract

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 MYOC, p.Pro370Leu and LTBP2, 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 MYOC and LTBP2 mutations were found to cosegregate in affected individuals leading to a severe JOAG phenotype, thereby suggesting a digenic inheritance of MYOC with LTBP2 in this family.

Keywords

glaucoma - digenic - inheritance - mutation - phenotype

Data Availability Statement

Data supporting the findings of the study are available from the corresponding author (V.G.) on request.

Ethical Approval

All procedures performed in the study involving human participants were in accordance with the ethical standards of the institutional ethics committee and with the Declaration of Helsinki 1964 and its later amendments or comparable ethical standards.

Authors' Contributions

Study conceptualization, analysis of clinical manifestations, and manuscript preparation were done by V.G. and B.I.S. Analysis and interpretation of genetic analysis data were done by B.I.S. Analysis of clinical manifestations was done by K.M., S.G., and K.A. Manuscript revision and study supervision were done by V.G.

Publikationsverlauf

Eingereicht: 04. September 2020

Angenommen: 23. November 2020

Artikel online veröffentlicht:
02. Februar 2021

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