Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.
OBJECTIVE
Congenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene. The purpose of this study was to identify the genetic cause of CHED2 in six Indian families and catalog all known mutations in the SLC4A11 gene.


METHODS
Peripheral blood samples were collected from individuals of the families with CHED2 and used in genomic DNA isolation. PCR primers were used to amplify the entire coding region including intron-exon junctions of SLC4A11. Amplicons were subsequently sequenced to identify the mutations.


RESULTS
DNA sequence analysis of the six families identified four novel (viz., p.Thr262Ile, p.Gly417Arg, p.Cys611Arg, and p.His724Asp) mutations and one known p.Arg869His homozygous mutation in the SLC4A11 gene. The mutation p.Gly417Arg was identified in two families.


CONCLUSIONS
This study increases the mutation spectrum of the SLC4A11 gene. A review of the literature showed that the total number of mutations in the SLC4A11 gene described to date is 78. Most of the mutations are missense, followed by insertions-deletions. The present study will be helpful in genetic diagnosis of the families reported here.
Minto Eye Hospital, Bangalore Medical College and Research Institute, Bangalore India.
Srinivas Gopinath
SG
Kodaganur
Saketh
S
Kapoor
Avinash M
AM
Veerappa
Sagar Jagannath
SJ
Tontanahal
Astha
A
Sarda
S
S
Yathish
D Ravi
DR
Prakash
Arun
A
Kumar
D000595:Amino Acid Sequence; D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003198:Computer Simulation; D017124:Conserved Sequence / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
D027321:Anion Transport Proteins; D017920:Antiporters; C425809:SLC4A11 protein, human