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Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.

Molecular vision - 1 Jan 2022

Panagiotou Evangelia S, Fernandez-Fuentes Narcis, Farraj Layal Abi, McKibbin Martin, Elçioglu Nursel H, Jafri Hussain, Cerman Eren, Parry David A, Logan Clare V, Johnson Colin A, Inglehearn Chris F, Toomes Carmel, Ali Manir

Abstract excerpt

Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. Methods: Conventional autozygosity mapping was performed using single nucleotide polymorphism (SNP) microarrays. Whole-exome sequencing was completed on genomic DNA from one affected member of each family. Exome...

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PMID: 35693420
PMCID: PMC9122475

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