Autism and Smith-Lemli-Opitz syndrome (extract)

ADAM FEINSTEIN, Editor of LOOKING UP, spoke to Professor ANTHONY MONACO, of the Wellcome Trust Centre for Human Genetics in Oxford, UK



ADAM FEINSTEIN, Editor, LOOKING UP: What is the latest research into possible genetic links between Smith-Lemli-Opitz syndrome (SLOS) and autism? The reason I ask is the recent finding from the Kennedy Krieger Institute in Baltimore, published in the American Journal of Medical Genetics, that a small subgroup of children with autism have abnormally low cholesterol levels. In SLOS,  the body is unable to make or process cholesterol, and the Baltimore study authors also found evidence that the low cholesterol levels were similarly caused by a reduced ability of the body to produce cholesterol naturally. With this in mind, I wonder if there could be a genetic link between Smith-Lemli-Opitz syndrome and autism in some cases? Several studies have found that a proportion of Smith-Lemli-Opitz syndrome sufferers also meet the criteria for autism - although some of the symptoms are very different (SLOS is characterised by distinctive physical features - a small head, upturned nose, droopy eyelids, cleft palate, short thumbs, low-set ears, a single palm crease and webbing between the second and third toes - but also by mental retardation or learning disabilities and behavioural problems). We know that Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene.

Professor ANTHONY MONACO, Wellcome Trust Centre for Human Genetic, Oxford , UK: A recent publication attempted to assess the incidence of SLOS and other sterol disorders with autism spectrum disorders (ASDs). The study analysed blood samples of individuals with ASD for sterol levels that would be anticipated in individuals with SLOS ...

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