‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’

Mahnoor Javed; Fatima Mohsin; Ayesha Javed

doi:10.20944/preprints202402.0226.v1

Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Version 1 : Received: 4 February 2024 / Approved: 5 February 2024 / Online: 5 February 2024 (06:27:43 CET)
Version 2 : Received: 5 February 2024 / Approved: 6 February 2024 / Online: 6 February 2024 (03:51:30 CET)

A rare genetic disorder caused by col18.a1 mutations, inherited mostly in autosomal recessive and rarely in autosomal dominant pattern, giving rise to ocular abnormalities and other associated disorders, the condition is referred to as Knobloch syndrome. This paper overviews the anterior and posterior ocular symptoms in Knobloch patients, thus demonstrating the major findings in Knobloch cases including the mutational analysis which discusses the proteins involved and exon number on which mutations are detected. Animal modeling done by knocking out col18.a1 has also been discussed to determine the functions of this gene which have been identified based on anomalies found in knock-out mice.

Keywords: Mutation; Col18A1; Knobloch syndrome; mouse modeling; treatments

Biology and Life Sciences, Biology and Biotechnology

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‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’

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