Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.
OBJECTIVE
To determine the extent of allelic, and possibly locus, heterogeneity in congenital hereditary endothelial dystrophy (CHED, MIM 217700) in patients from a highly consanguineous Saudi population.


METHODS
Homozygosity was determined at the solute carrier family 4, sodium bicarbonate transporter-like, member 11 (SLC4A11) locus followed by full sequencing of SLC4A11 in 10 patients representing seven unrelated families.


RESULTS
All 10 patients were homozygous at the SLC4A11 locus. Seven mutations were identified, five of which are novel, including one likely intronic splicing enhancer mutation, all predicted to result in reduction or loss of bicarbonate transporter-related protein 1 (BTR1).


CONCLUSIONS
In this small cohort, no evidence was found of genetic heterogeneity in CHED and that loss of BTR1 function is the most likely mutational mechanism.
Aldahmesh
Mohammed A
MA
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khan
Arif O
AO
Meyer
Brian F
BF
Alkuraya
Fowzan S
FS
D000595:Amino Acid Sequence; D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D004728:Endothelium, Corneal / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012529:Saudi Arabia / Q000208:ethnology; D017422:Sequence Analysis, DNA
D027321:Anion Transport Proteins; D017920:Antiporters; C425809:SLC4A11 protein, human