1. Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, et al. {{Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE}}. {Hum Mol Genet}. 2011 Aug 24.
Autism is a neurodevelopmental disorder with increasing evidence of heterogeneous genetic etiology including de novo and inherited copy number variants (CNVs). We performed array comparative genomic hybridization (CGH) using a custom Agilent 1M oligonucleotide array intended to cover 197,332 unique exons in RefSeq genes; 98% were covered by at least one probe and 95% were covered by three or more probes with the focus on detecting relatively small copy number variants that would implicate a single protein coding gene. The study group included 99 trios from the Simons Simplex Collection. The analysis identified and validated 55 potentially pathogenic CNVs, categorized as de novo, autosomal heterozygous, inherited homozygous autosomal, complex autosomal, and hemizygous deletions on the X chromosome of probands. Twenty percent (11 of 55) of these CNV calls were rare when compared to the Database of Genomic Variants. Thirty-six percent (20 of 55) of the CNVs were also detected in the same samples in an independent analysis using the 1M Illumina SNP array. Findings of note included a common and sometimes homozygous 61 bp exonic deletion in SLC38A10, three CNVs found in lymphoblast-derived DNA but not present in whole-blood derived DNA and, most importantly, in a male proband, an exonic deletion of the TMLHE that encodes the first enzyme in the biosynthesis of carnitine. Data for CNVs present in lymphoblasts but absent in fresh blood DNA suggest that these represent clonal outgrowth of individual B cells with pre-existing somatic mutations rather than artifacts arising in cell culture.
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2. Happe F, Charlton RA. {{Aging in Autism Spectrum Disorders: A Mini-Review}}. {Gerontology}. 2011 Aug 24.
This article addresses an important and barely researched topic: what happens to children with autism spectrum disorders when they grow old. We review the small published literature on aging in autism. We then consider the relevance of research on ‘neurotypical’ aging in core domains of autistic impairment: social cognition, executive function, cognitive style and memory. Research themes from the study of normal aging, including cognitive reserve, compensation, quality of life, loneliness and physical health are of relevance for future research on autism. Studies of aging in autism will be important not only to plan appropriate services, but also to shed light on the full developmental trajectory of this neurodevelopmental condition, and perhaps provide clues to neuropathology and etiology.
