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Review
. 2012 Feb 23;366(8):733-43.
doi: 10.1056/NEJMra1114194.

Genomics, intellectual disability, and autism

Heather C Mefford  1 , Mark L Batshaw, Eric P Hoffman
Affiliations
Review

Genomics, intellectual disability, and autism

Heather C Mefford et al. N Engl J Med. .
No abstract available

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Figures

Figure 1
Figure 1. A Diagnostic Algorithm for the Evaluation of a Patient with Intellectual Disability of Unknown Cause
Evaluation for copy-number changes with the use of array comparative genomic hybridization (CGH) should be performed early in the diagnostic workup. Indications for magnetic resonance imaging (MRI) include macrocephaly or microcephaly, asymmetric neurologic findings, intractable epilepsy or focal seizures, abnormal movements (e.g., dystonia, chorea, or other extrapyramidal findings), hypotonia or long tract signs, facial stigmata associated with developmental brain abnormalities, and a history of a progressive neurologic disorder.
Figure 2
Figure 2. Three Strategies for Exome Sequencing in Gene Discovery
Panel A shows the sequencing of DNA samples from multiple, unrelated, similarly affected subjects to identify genes in which some or all of the subjects carry a mutation. Panel B shows trio analysis, in which samples from the affected child and both unaffected parents are analyzed to identify de novo changes in the child. Panel C shows recessive analysis, in which samples from one or more affected children are sequenced to identify the genes that harbor two mutations (one on each allele). Open circles and squares represent unaffected female and male subjects, respectively; solid symbols indicate affected status. In all the panels, horizontal lines represent exonic sequences, and X represents a sequence change as compared with the reference human genome.
See this image and copyright information in PMC

Comment in

  • Realizing genomic medicine.
    Phimister EG, Feero WG, Guttmacher AE. Phimister EG, et al. N Engl J Med. 2012 Feb 23;366(8):757-9. doi: 10.1056/NEJMe1200749. N Engl J Med. 2012. PMID: 22356329 No abstract available.
  • Genomics, intellectual disability, and autism.
    Deth RC. Deth RC. N Engl J Med. 2012 Jun 7;366(23):2231-2; author reply 2232. doi: 10.1056/NEJMc1204397. N Engl J Med. 2012. PMID: 22670919 No abstract available.

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