Deletions in neurexin-1, a candidate gene for autism, may cause intellectual disability, speech delays, seizures, poor muscle tone and unusual facial features, according to two studies published in the past two months.
A boy with autism lacks one copy of SHANK2 and has a duplication of CHRNA7, two genes that have been linked together to autism risk, according to a case study published 25 January in Clinical Genetics.
Deletions in the autism-linked gene AUTS2 trigger a variety of symptoms, including intellectual disability, developmental delay, a small head and unusual facial features, suggests a large study published 7 February in the American Journal of Human Genetics.
Deletion of CHRM3, a gene on chromosome 1, leads to autism-like behaviors, according to a case study published 16 December in the European Journal of Medical Genetics.
Children with a deletion in the 22q11.2 chromosomal region have one of two distinct sets of symptoms, and only one of those is associated with autism, according to a study published 28 August in Research in Developmental Disabilities.
Two new case studies highlight how complex rearrangements of chromosome 15 can lead to different disorders, including autism and the related Prader-Willi syndrome.
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.
Mutations in the CDKL5 gene lead to developmental delay starting at birth, seizures that begin before 3 months of age, and subtly atypical facial features, according to a study published 8 August in the European Journal of Human Genetics.
Traditional prenatal testing cannot distinguish between large disruptive chromosomal duplications and multiple harmless repeats, according to a study published 25 July in the European Journal of Human Genetics.
Characteristic symptoms of Phelan-McDermid syndrome — a disorder caused by the loss of the 22q13.3 chromosomal region — may include bipolar disorder and a sudden loss of skills during adulthood, according a study published in June in Molecular Syndromology.