Molecular and Clinical Investigation of XXXX in the Greek-Cypriot Population.

@entity1 @entity8324 @entity58545 @entity32372 @entity15007 @entity177 @entity1790 @entity454
BACKGROUND AND AIMS: @entity8324 represents 3% of @entity1790 in @entity1 . Two genes have been identified as the main genetic causes of @entity8324 , @entity32372 and @entity15007 , with an autosomal recessive mode of inheritance. In the present study, we studied for the first time, genetically and clinically, all the cystinuric families identified so far in the Greek-Cypriot population. METHODS: Discovery of mutations was performed through polymerase chain reaction (PCR)-single analysis and DNA resequencing. New families were investigated through PCR-RFLPs. Clinical data were collected through the hospital @entity1 ' records and analytical follow-up of the families. RESULTS AND DISCUSSION: We found a total of five mutations in 28 Greek-Cypriot cystinuric @entity1 belonging in 12 families. The most frequent mutation among the 28 Greek-Cypriot @entity1 is the @entity32372 - @entity58545 , which is also the second most frequent mutation in Europe, representing a genetic founder effect. Sixteen of the 28 @entity1 are homozygous for this mutation. Even though a consanguinity loop was obvious in only one family, other @entity1 were from families in small villages where endogamy was practiced for many centuries. Timely clinical and genetic diagnosis, accompanied by early treatment, is significant for the good health of most of our @entity1 . Only    14% of them developed @entity177 , and only one reached @entity454 ( @entity454 ). CONCLUSION: Five @entity32372 and @entity15007 mutations appear to be responsible for the genetic basis of @entity8324 in the Greek-Cypriot @entity1 ; having such a limited number of causative mutations will simplify diagnostics for this population.
