Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait.

Abstract

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.

• Authors: L A Bastaki, F Hegazy, M M Al-Heneidi, N Turki, A S Azab, K K Naguib
• Journal: Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit (East Mediterr Health J) Vol. 10 Issue 1-2 Pg. 116-24 ( 2004) ISSN: 1020-3397 [Print] Egypt
• PMID: 16201716 (Publication Type: Journal Article)

Chemical References

• FMR1 protein, human
• Nerve Tissue Proteins
• RNA-Binding Proteins
• Fragile X Mental Retardation Protein

Topics

• Age Factors
• Blotting, Southern
• Cytogenetics (methods)
• Fragile X Mental Retardation Protein
• Fragile X Syndrome (complications, diagnosis, epidemiology, genetics)
• Genetic Testing (methods)
• Humans
• Incidence
• Intellectual Disability (diagnosis, etiology)
• Kuwait (epidemiology)
• Male
• Nerve Tissue Proteins (genetics)
• Pedigree
• Polymerase Chain Reaction (methods)
• Prevalence
• Prospective Studies
• Puberty
• RNA-Binding Proteins (genetics)
• Sensitivity and Specificity
• Severity of Illness Index
• Time Factors
• Wechsler Scales