Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.
Fragile X syndrome is the most common form of inherited mental retardation (MR). It is caused by the expansion of CGG triplet repeats in the fragile X mental retardation 1 (FMR1) gene. In mentally retarded males, the frequency of fragile X syndrome is approximately 2-3 percent, but little is known about its proportion in mentally retarded patients from countries where parental consanguinity is common. The objective of this study was to estimate the frequency of fragile X syndrome (FXS) in mentally retarded patients from Iran. We examined a total of 508 families with MR that had been referred to the Genetics Research Center (GRC) in Tehran of which 467 families had at least two mentally retarded children. In 384 families, the parents were related and in 124 they were not related of which most of them had putative or established X-linked inheritance pattern. Full FMR1 mutations were found in 32 of the 508 families studied (6.3%), in 19 out of 124 families with apparently unrelated parents (15.3%), and in 13 of the 384 consanguineous families (3.4%). Thus, in Iran, the relative frequency of FXS seems to be high, and in patients with unrelated parents is much higher. We also show that even in families with consanguineous parents, FXS has to be ruled out before assuming that familial MR is due to autosomal recessive gene defects. Molecular studies are in progress to explain the high proportion of FMR1 mutations in mentally retarded offspring of unrelated Iranian parents.
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Ali Reza
AR
Pouya
Seyedeh Sedigheh
SS
Abedini
Neda
N
Mansoorian
Farkhondeh
F
Behjati
Nooshin
N
Nikzat
Marzieh
M
Mohseni
Sahar Esmaeeli
SE
Nieh
Lia
L
Abbasi Moheb
Hossein
H
Darvish
Gholamreza Bahrami
GB
Monajemi
Susan
S
Banihashemi
Kimia
K
Kahrizi
Hans Hilger
HH
Ropers
Hossein
H
Najmabadi
D003241:Consanguinity; D005190:Family; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005787:Gene Frequency; D050172:Genes, X-Linked; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics*; D007492:Iran / Q000453:epidemiology; D008297:Male