Characterization of CTNS mutations in Arab patients with cystinosis.
BACKGROUND
Cystinosis is an autosomal recessive disease characterized by impaired transport of free cystine out of lysosomes with resulting renal and ophthalmic manifestations. Mutations in CTNS, encoding cystinosin, are the only known cause of this autosomal recessive disorder with more than 85 different mutations described so far.


OBJECTIVE
To identify CTNS mutations in Arab cystinosis patients.


METHODS
In this study, we have analyzed the mutational spectrum of CTNS in a population of 21 patients from 13 families of Arab origin. The entire coding region and flanking intronic regions of CTNS were analyzed by direct sequencing.


RESULTS
Eight mutations were identified, four of which are novel (c.530A>G, c.681G>A, 1013T>G, and c.1018_1041del).


CONCLUSIONS
These alleles will provide the basis for routine molecular diagnosis of cystinosis in the region.
Aldahmesh
Mohammed A
MA
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Humeidan
Amal
A
Almojalli
Hamad A
HA
Khan
Arif O
AO
Rajab
Mohammed
M
AL-Abbad
Abbas A
AA
Meyer
Brian F
BF
Alkuraya
Fowzan S
FS
D000595:Amino Acid Sequence; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D018912:Arabs / Q000235:genetics*; D001483:Base Sequence; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology; D003554:Cystinosis / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012333:RNA, Messenger / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012529:Saudi Arabia / Q000453:epidemiology; D017422:Sequence Analysis, DNA
D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human; D012333:RNA, Messenger