Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.
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.
Ramprasad
Vedam L
VL
ONGC Department of Genetics & Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.
Ebenezer
Neil D
ND
Aung
Tin
T
Rajagopal
Rama
R
Yong
Victor H K
VH
Tuft
Stephen J
SJ
Viswanathan
Deepa
D
El-Ashry
Mohamed F
MF
Liskova
Petra
P
Tan
Donald T H
DT
Bhattacharya
Shomi S
SS
Kumaramanickavel
Govindasamy
G
Vithana
Eranga N
EN
D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D003316:Corneal Diseases / Q000235:genetics*; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007194:India; D009154:Mutation; D014481:United States
D027321:Anion Transport Proteins; D017920:Antiporters; C425809:SLC4A11 protein, human