Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

doi:10.1136/jmedgenet-2012-101325

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Article

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

Journal of medical genetics - 1 Apr 2013

Soler Vincent José, Tran-Viet Khanh-Nhat, Galiacy Stéphane D, Limviphuvadh Vachiranee, Klemm Thomas Patrick, St Germain Elizabeth, Fournié Pierre R, Guillaud Céline, Maurer-Stroh Sebastian, Hawthorne Felicia, Suarez Cyrielle, Kantelip Bernadette, Afshari Natalie A, Creveaux Isabelle, Luo Xiaoyan, Meng Weihua, Calvas Patrick, Cassagne Myriam, Arné Jean-Louis, Rozen Steven G, Malecaze François, Young Terri L

Abstract excerpt

BACKGROUND: Corneal intraepithelial dyskeratosis is an extremely rare condition. The classical form, affecting Native American Haliwa-Saponi tribe members, is called hereditary benign intraepithelial dyskeratosis (HBID). Herein, we present a new form of corneal intraepithelial dyskeratosis for which we identified the causative gene by using deep sequencing technology. METHODS AND RESULTS: A seven member Caucasian...

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Identifiers

PMID: 23349227
DOI: 10.1136/jmedgenet-2012-101325
PMCID: PMC4115150

Genes

NLRP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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