Preprint Communication Version 1 This version is not peer-reviewed

Analysis of Circadian Clock Gene BMAL1 in Pakistani Congenital Cataract Families

Version 1 : Received: 5 August 2018 / Approved: 6 August 2018 / Online: 6 August 2018 (10:04:11 CEST)

How to cite: Bagchi, U.; Micheal, S.; Noorani Siddiqui, S.; Imran Khan, M.; Felder-Schmittbuhl, M.; Bergen, A.A. Analysis of Circadian Clock Gene BMAL1 in Pakistani Congenital Cataract Families. Preprints 2018, 2018080108 (doi: 10.20944/preprints201808.0108.v1). Bagchi, U.; Micheal, S.; Noorani Siddiqui, S.; Imran Khan, M.; Felder-Schmittbuhl, M.; Bergen, A.A. Analysis of Circadian Clock Gene BMAL1 in Pakistani Congenital Cataract Families. Preprints 2018, 2018080108 (doi: 10.20944/preprints201808.0108.v1).

Abstract

In mice, mutations or targeted disruptions of the core circadian gene Bmal1 have been implicated in early onset of ocular pathologies, including premature/congenital cataract development. The aim of the present study was to analyze probands of consanguineous Pakistani cataract families to identify the novel pathogenic variants in the BMAL1 gene. We have studied 21 congenital cataract families. Ophthalmic examination was performed for the probands and available family members. Genomic DNA was isolated from peripheral blood. PCR and Sanger sequencing was performed for the entire coding region of the BMAL1 gene. Targeted Sanger sequencing of BMAL1 revealed a heterozygous variant c.41A>T; p.(Asp14Val) in one proband, but it did not co-segregate with the disease phenotype in the family. In addition, a nonsynonymous variant (rs2290037) was identified in five probands. Our study is the first one to analyze the role of BMAL1 gene mutations in humans for their association with congenital cataract. Although we were unable to find the variants associated with congenital cataract families from Pakistan, more studies from other populations will be informative to further prove the role of BMAL1 with the disease.

Subject Areas

congenital cataract; consanguineous; circadian; mutation

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