IngentaConnect AicardiGoutieres syndrome: monogenic recessive disease, genetical...

Authors: Fauré, Sabine¹; Bordelais, Isabelle¹; Marquette, Catherine¹; Rittey, Chris²; Campos-Castello, Jaime³; Goutières, Françoise⁴; Ponsot, Gérard⁵; Weissenbach, Jean¹; Lebon, Pierre⁵

Source: Clinical Genetics, Volume 56, Number 2, August 1999 , pp. 149-153(5)

Publisher: Blackwell Publishing

Abstract:

Aicardi-Goutières syndrome (AGS) is a severe progressive familial encephalopathy, which is usually diagnosed shortly after birth. Using the principle of homozygosity mapping, genome-wide screening of five consanguineous families was performed to search for a homozygous region shared by all affected individuals. A total of 364 markers with an average spacing of 9.9 cM were genotyped, but no homozygous region common to all affected individuals could be found. Regions of homozygosity in affected sibs could only be identified within each family individually. This may reflect genetic heterogeneity, possibly related to clinical heterogeneity, since several syndromes are clinically difficult to distinguish from AGS. Involvement of a small number of genes and/or of an external factor, such as infection, may also explain the absence of a homozygous region common to all affected individuals.

Keywords: Aicardi-Goutières; heterogeneity; homozygosity mapping; interferon-α; virus

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.560210.x

Affiliations: 1: Généthon-CNRS URA 1922, Evry, France, 2: Paediatric Neurology Unit, Sheffield Children's Hospital, Sheffield, UK, 3: Neuropediatric Service, Hospital Universitario San Carlos, Madrid, Spain, 4: Hôpital des Enfants Malades, 5: Université René Descartes, Faculté de Medecine Cochin,

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Aicardi-Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?