Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity. (2nd January 2016)

• Record Type: Journal Article
• Authors: Bui, Tina; Young, Jonathan W.; Frausto, Ricardo F.; Markello, Thomas C.; Glasgow, Ben J.; Aldave, Anthony J.
• Is Part Of: Ophthalmic genetics. Volume 37:Number 1(2016)
• Page Start: 76
• Page End: 80
• Publication Date: 2016-01-02
• Subjects: Hereditary benign intraepithelial dyskeratosis -- NLRP1 -- segment duplication; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2014.889169
• Languages: English
• ISSNs: 1381-6810

Abstract

Abstract: Background : Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal-dominant disorder of the conjunctiva and oral mucosa first described in and predominantly affecting descendents of Haliwa-Saponi Native Americans. We report a spontaneous case of histopathologically-confirmed HBID affecting an individual not of Native American ancestry. Materials and Methods : Report of a case with histopathologic examination of an excised conjunctival specimen as well as molecular and cytogenetic analysis. Results : A Caucasian boy with a history of oral lesions and conjunctival injection from birth developed bilateral corneal opacities at age 5 and underwent penetrating keratoplasty, with recurrence of the corneal opacification shortly after surgery. Examination of a conjunctival biopsy specimen revealed features consistent with HBID. Copy number variant (CNV) analysis revealed a de novo 4q35 duplication that overlapped the duplication previously associated with HBID, although no genes were identified in the common interval. NLRP1 gene sequencing failed to reveal a presumed pathogenic variant. Conclusions : HBID may develop de novo in individuals who are not of Native American ancestry. The absence of coding regions in a duplicated region of 4q35 common to both the individual that we report and previously associated with HBID raises questions regarding the significance of this CNV in the pathogenesis of HBID.