Sentences with phrase «x-linked intellectual disability»

In a large - scale sequencing project in approximately 200 pedigrees with suspected X-linked intellectual disability, two protein - truncating mutations in SLC9A6 were found [5].

«Seven genes for X-linked intellectual disability: New mutations on the X chromosome.»

X-linked intellectual disability is caused by defective genes on the X chromosome.

An international research team headed by Max Planck researcher Vera Kalscheuer has now analysed 405 families, in which cases of X-linked intellectual disability occur.

In addition, they discovered that X-linked intellectual disability can also be caused by mutations in seven other genes that, until now, were not associated with the disorder.

With the help of systematic re-sequencing of all X-linked genes, the responsible genetic defect can be identified in around 60 percent of families with X-linked intellectual disability.

«In addition to known disease - related genes, we have discovered seven novel genes as the cause of X-linked intellectual disability and analysed what signaling pathways in the cells each protein is involved in,» says Kalscheuer.

X-linked intellectual disability is a disorder that predominantly affects men and can have highly variable clinical manifestations.

«X-linked intellectual disability: Medical mystery solved in record time.»

Not exact matches

The authors unveil a novel mouse model of chromosome Xq22.1 deletion syndrome, a human disease characterized by developmental delay, intellectual disability, epilepsy, dysmorphic features, and an X-linked pattern of inheritance.

Assuming between 1 % and 3 % of the world's population is diagnosed with an intellectual disability, and approximately 10 % to 20 % of the causes are due to X-linked genes, CS may affect between one in 16,000 and one in 100,000 people.