X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

doi:10.1016/j.ajhg.2011.12.019

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Article

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

American journal of human genetics - 10 Feb 2012

Webb Tom R, Matarin Mar, Gardner Jessica C, Kelberman Dan, Hassan Hala, Ang Wei, Michaelides Michel, Ruddle Jonathan B, Pennell Craig E, Yazar Seyhan, Khor Chiea C, Aung Tin, Yogarajah Mahinda, Robson Anthony G, Holder Graham E, Cheetham Michael E, Traboulsi Elias I, Moore Anthony T, Sowden Jane C, Sisodiya Sanjay M, Mackey David A, Tuft Stephen J, Hardcastle Alison J

Abstract excerpt

X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth and later onset of mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile cataracts. We identified copy-number variation, frameshift, missense, splice-site and nonsense mutations in the Chordin-like 1 gene (CHRDL1) on Xq23 as the cause of the...

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PMID: 22284829
DOI: 10.1016/j.ajhg.2011.12.019
PMCID: PMC3276677

Genes

CHRDL1

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