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author:("lagace, L")
1.  A second locus for Aicardi‐Goutières syndrome at chromosome 13q14–21 
Journal of Medical Genetics  2005;43(5):444-450.
Background
Aicardi‐Goutières syndrome (AGS) is an autosomal recessive, early onset encephalopathy characterised by calcification of the basal ganglia, chronic cerebrospinal fluid lymphocytosis, and negative serological investigations for common prenatal infections. AGS may result from a perturbation of interferon α metabolism. The disorder is genetically heterogeneous with approximately 50% of families mapping to the first known locus at 3p21 (AGS1).
Methods
A genome‐wide scan was performed in 10 families with a clinical diagnosis of AGS in whom linkage to AGS1 had been excluded. Higher density genotyping in regions of interest was also undertaken using the 10 mapping pedigrees and seven additional AGS families.
Results
Our results demonstrate significant linkage to a second AGS locus (AGS2) at chromosome 13q14–21 with a maximum multipoint heterogeneity logarithm of the odds (LOD) score of 5.75 at D13S768. The AGS2 locus lies within a 4.7 cM region as defined by a 1 LOD‐unit support interval.
Conclusions
We have identified a second AGS disease locus and at least one further locus. As in a number of other conditions, genetic heterogeneity represents a significant obstacle to gene identification in AGS. The localisation of AGS2 represents an important step in this process.
doi:10.1136/jmg.2005.031880
PMCID: PMC2649012  PMID: 15908569
AGS2; Aicardi‐Goutières syndrome; interferon α; intracranial calcification; 13q14–21
2.  Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years. 
AIMS: To evaluate the evolution of ocular and electroretinographic findings in identical twin sisters with the carbohydrate deficient glycoprotein (CDG) syndrome over a period of 14 years. METHODS: Both girls underwent a clinical ophthalmic examination with funduscopy and an electrophysiological assessment with recording of flash electroretinogram (FERG) at the age of 4 years and 18 years RESULTS: On ophthalmic examination at the age of 4 years an alternating convergent squint and a saccadic pursuit was diagnosed. In both, vision was 6/9 bilaterally. Fundus examination showed normal optic discs, narrow blood vessels, and a mild irregular pigmentation in the periphery. In one girl the FERG showed a recognisable a, b1, and b2-wave with reduced amplitude to less than 40% of the normal. In the other girl the reduction in amplitude was still more obvious, but for the white flash a small b1-wave was still present. At the age of 18 vision had remained 6/9 in both eyes. Funduscopy showed pink optic discs, moderately narrowed blood vessels, and bony spicule pigmentary deposits in the mid periphery. The adapto ERG, performed in identical conditions at 18 years of age, showed a completely extinguished trace for both eyes. CONCLUSIONS: Despite progressive deterioration of ERG findings good central vision was preserved over 14 years.
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PMCID: PMC505645  PMID: 8976701

Results 1-2 (2)