Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait.
In a prospective study in Kuwait, 182 mentally retarded male patients who fulfilled 5 or more clinical criteria of fragile X syndrome were screened using polymerase chain reaction (PCR) testing. Twenty patients (11%) were highly suspected of having fragile X syndrome due to mutation at the FRAXA locus; none had mutation at the FRAXE locus. Of these, 11 (55%) were confirmed fragile-X-positive by both cytogenetic and PCR techniques. The most frequent clinical features were: prominent forehead, high arched palate, hyperextensible joints, long ears, prominent jaw, height > 10th centile and attention-deficit hyperactivity. Less common were avoidance of eye contact (45%), autism (45%) and seizures (30%). Large testes were found in 55% of cases. Pre-pubertal and post-pubertal clinical criteria were different.
Bastaki
L A
LA
Kuwait Medical Genetics Centre, Kuwait.
Hegazy
F
F
Al-Heneidi
M M
MM
Turki
N
N
Azab
A S
AS
Naguib
K K
KK
D000367:Age Factors; D015139:Blotting, Southern; D003582:Cytogenetics / Q000379:methods; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D015994:Incidence; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology*; D007730:Kuwait / Q000453:epidemiology; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D015995:Prevalence; D011446:Prospective Studies; D011627:Puberty; D016601:RNA-Binding Proteins / Q000235:genetics; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D013997:Time Factors; D014888:Wechsler Scales
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human