Aicardi–Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
- 1 August 1999
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 56 (2) , 149-153
- https://doi.org/10.1034/j.1399-0004.1999.560210.x
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
This publication has 24 references indexed in Scilit:
- Aicardi-Goutières Syndrome: An Expanding PhenotypeNeuropediatrics, 1998
- The Aicardi-Goutières syndrome: Variable clinical expression in two siblingsPediatric Neurology, 1997
- A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21Human Molecular Genetics, 1997
- Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22Human Molecular Genetics, 1996
- Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35 [published erratum appears in Hum Mol Genet 1996 Jun;5(6):862-3]Human Molecular Genetics, 1996
- Localisation of Pseudohypoaldosteronism Genes to Chromosome 16p12.2–13.11 and 12p13.1-Pter by Homozygosity MappingHuman Molecular Genetics, 1996
- A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23Human Molecular Genetics, 1996
- The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).Journal of Medical Genetics, 1995
- Encephalitis among cree children in northern QuebecAnnals of Neurology, 1988
- Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.Journal of Medical Genetics, 1986