Children with multiple copies of MeCP2, the gene linked to Rett syndrome, have an immune deficiency in addition to intellectual disabilities, impaired motor skills and seizures. The findings, published 5 December in Science Translational Medicine, may explain why these individuals suffer from frequent bouts of severe respiratory infections and pneumonia.

Researchers have made neurons from the skin cells of mice that model Rett syndrome, according to a study published in the December issue Molecular Psychiatry.

Men with autism struggle with attention to detail and dexterity, according to a study published 17 October in PLoS One. Men and women with the disorder both have trouble with social skills, however.

Most cases of Rett syndrome in China are the result of mutations on the paternal copy of MeCP2, according to a study published 27 August in the European Journal of Medical Genetics.

Female mice of two different genetic backgrounds consistently model the behavioral features of Rett syndrome, according to a study published 9 October in Human Molecular Genetics. Although Rett syndrome presents almost entirely in girls, researchers have thus far relied mostly on male mice to model the disorder.

People with autism are twice as likely as controls to have mutations that disable both copies of a gene, according to preliminary research presented Wednesday at the Autism Consortium Research Symposium in Boston.

Individuals with an extra copy of MeCP2, the gene mutated in Rett syndrome, have severe developmental delay accompanied by seizures, respiratory infections, poor motor skills and features of autism, according to two new case studies.

A comprehensive analysis of large deletions and duplications of DNA bolsters the idea that some cases of developmental delay and autism result from a combination of two damaging hits to the genome, according to research published 12 September in the New England Journal of Medicine.

Mutations in AFF2, a gene located on the X chromosome, are about five times as common in men with autism as in controls, according to a study published 10 July in Human Molecular Genetics.

Women who have intelligence quotients in the normal range may nevertheless have fragile X syndrome, often described as the most common inherited form of mental retardation, according to a case study published 27 June in Molecular Autism.