Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2)

✍ Scribed by Vedam L. Ramprasad; Neil D. Ebenezer; Tin Aung; Rama Rajagopal; Victor H.K. Yong; Stephen J. Tuft; Deepa Viswanathan; Mohamed F. El-Ashry; Petra Liskova; Donald T.H. Tan; Shomi S. Bhattacharya; Govindasamy Kumaramanickavel; Eranga N. Vithana

• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 264 KB
• Volume: 28
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.9487

✦ Synopsis

Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a severe and rare corneal disorder that presents at birth or shortly thereafter, characterized by corneal opacification and nystagmus. Recently the gene for CHED2 was identified and seven different mutations in the SLC4A11 gene were reported. Here, we report seven novel mutations and two previously identified mutations in families from India and the United Kingdom with recessive CHED. The novel changes include two nonsense (p.Trp240X; p.Gln800X) three missense (p.Glu143Lys; p.Cys386Arg; p.Arg755Trp) and two splice site mutations (c.2240+1G>A; c.2437-1G>A). Interestingly, the c.2398C>T (p.Gln800X) and c.2437-1G>A identified in two affected siblings represent the first compound heterozygous mutations in the SLC4A11 gene.