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Article

Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families.

Human molecular genetics - 30 Apr 2021

Madhangi M, Dutta Debanjan, Show Sautan, Bhat Vishwanath K, Rather Mohammad I, Tiwari Ankana, Singh Nivedita, Duvvari Maheswara R, Murthy Gowri J, Kumar Arun, Nongthomba Upendra

Abstract excerpt

Isolated Microspherophakia (MSP) is an autosomal recessive disorder characterized by a smaller than normal spherical lens. Till date, LTBP2 is the only gene shown to cause MSP. We used homozygosity mapping and whole-exome sequencing and identified a homozygous mutation, c.1148C > T (p.Pro383Leu), in the WDR8 (or WRAP73) gene in two Indian MSP families. In vitro experiments showed that the missense mutation...

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PMID: 33693649
DOI: 10.1093/hmg/ddab061

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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