title: R778L, H1069Q, and I1102T mutation study in neurologic Wilson disease.
abstract: There is paucity of the studies on mutations in neurologic Wilson disease (WD) in India. We studied H1069Q, R778L, I1102T mutations in 26 patients with neurologic WD from 25 families in north India. The basis of diagnosis of neurologic WD was clinical, Kayser-Fleischer (KF) ring, and ceruloplasmin. Data collected included: family history, clinical characteristics, laboratory data, ultrasound findings, magnetic resonance imaging (MRI) findings, and severity of the disease. DNA was isolated from venous blood and subjected to H1069Q, R778L, and I1102T mutation study. The age range was 5-41 years. Family history was present in 8 patients. The H1069Q, R778L, and I1102T mutations were absent in all the patients and in 16 parents and siblings. Severity of the illness was related to the extent of MRI changes but not with age of onset and hepatic involvement. H1069Q, R778L, and I1102T mutations were absent in our patients, which may be due to genetic and ethnic heterogeneity and further studies are required.
authors.affiliation: Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. jayanteek@yahoo.com
authors.forename: Jayantee
authors.initials: J
authors.lastname: Kalita
authors.forename: Bindu I
authors.initials: BI
authors.lastname: Somarajan
authors.forename: Usha K
authors.initials: UK
authors.lastname: Misra
authors.forename: Balraj
authors.initials: B
authors.lastname: Mittal
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007194:India; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics*; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D000596:Amino Acids; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases