W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.

Background: WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein showed different expression of mice brain and spinal cord, for which deletion causes seizure and early death.

Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.

This study sought to genetically define the first family diagnosed with neuronal ceroid lipofuscinosis from Qatar. Onset was in late infancy (3 years), and sequencing in the affected children revealed a novel homozygous c.613C>T change in exon 3 of ceroid-lipofuscinosis, neuronal 5, corresponding to a missense mutation of a conserved amino acid, p.

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.

We report the results of a study carried out to delineate genetic and epidemiological aspects of homocystinuria in the Qatari population. Sixty-four patients with homocystinuria (37 males, 27 females, age 1 to 29 years) from 31 nuclear families were ascertained over a period of more than four years. The incidence of homocystinuria in Qatar was calculated to be > or =1:3000, the highest in the world known so far.

Epidemiology of neonatal meningitis in Qatar.

Objective: Neonatal meningitis is responsible for thousands of neonatal deaths annually all over the world. Our study was conducted to determine the epidemiology, management and best preventive measures for neonatal meningitis in Qatar.

Methods: A retrospective study reviewed the records of bacterial meningitis patients under the age of one month.

Epidemiology of neonatal meningitis in Qatar.

Objective: Neonatal meningitis is responsible for thousands of neonatal deaths annually all over the world. Our study was conducted to determine the epidemiology, management and best preventive measures for neonatal meningitis in Qatar.

Methods: A retrospective study reviewed the records of bacterial meningitis patients under the age of one month.