Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
| Autor: | François Petit, Azzedine Aboura, Philippe Labrune, Frédéric Parisot, Vincent Gajdos, Christian Poüs, Liliane Capel, Alain Lachaux, Gérard Tachdjian |
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| Rok vydání: | 2004 |
| Předmět: |
Male
Glucuronosyltransferase Phenylalanine Mothers Biology chemistry.chemical_compound Fathers Fatal Outcome Genetics medicine Humans Metabolic disease Genetics (clinical) Crigler-Najjar Syndrome Sequence Deletion Isodisomy Base Sequence Infant Newborn Chromosome Chromosome Mapping Infant Bilirubin DNA Uniparental Disomy medicine.disease Molecular biology Uniparental disomy Uridine diphosphate chemistry Chromosomes Human Pair 2 Microsatellite Analysis biology.protein Microsatellite Microsatellite Repeats |
| Zdroj: | European journal of human genetics : EJHG. 13(3) |
| ISSN: | 1018-4813 |
| Popis: | Crigler-Najjar syndrome type I (CN-I) is a rare and severe autosomal recessive metabolic disease due to a total deficiency of bilirubin uridine diphosphate glucuronosyltransferase located on chromosome 2. We report on a child with CN-I due to a phenylalanine residue deletion inherited only from the father carrying this deletion at the heterozygous state. Cytogenetic analyses showed no deletion of the chromosomal 2q37 region. Microsatellite analysis of the child and his parents was consistent with paternal isodisomy for chromosome 2 in the child. This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases. |
| Databáze: | OpenAIRE |
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