Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1
| Autor: | Duval M, Marguerite Prieur, Géraldine Viot, Dufourcq-Lagelouse R, Vilmer E, Nathalie Lambert, Alain Fischer, de Saint Basile G |
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| Rok vydání: | 1999 |
| Předmět: |
Proband
Genetic Markers Male Vesicular Transport Proteins Mothers Locus (genetics) Genes Recessive Biology Fathers Genetics Homologous chromosome medicine Humans Allele Child Genetics (clinical) Alleles In Situ Hybridization Fluorescence Chromosome Aberrations Models Genetic Reverse Transcriptase Polymerase Chain Reaction Chédiak–Higashi syndrome Homozygote Intracellular Signaling Peptides and Proteins Chromosome Proteins medicine.disease Chromosome Banding Pedigree Uniparental Isodisomy Chromosomes Human Pair 1 Female Genomic imprinting Chediak-Higashi Syndrome |
| Zdroj: | European journal of human genetics : EJHG. 7(6) |
| ISSN: | 1018-4813 |
| Popis: | Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder (incidence around 1 in 106 births), characterised by a complex immunologic defects, reduced pigmentation, and presence of giant granules in many different cell types. It most likely results from defective organellar trafficking or protein sorting. The causative gene (LYST) has recently been identified and shown to be homologous to the beige locus in the mouse. CHS has always been reported associated with premature-termination-codon mutations in both alleles of LYST. We report a unique patient with CHS, who was homozygous for a stop codon in the LYST gene on chromosome 1 and who had a normal 46,XY karyotype. The mother was found to be a carrier of the mutation, whereas the father had two normal LYST alleles. Non-paternity was excluded by the analysis of microsatellite markers from different chromosomes. The results of 13 informative microsatellite markers spanning the entire chromosome 1 revealed that the proband had a maternal isodisomy of chromosome 1 encompassing the LYST mutation. The proband's clinical presentation also confirms the absence of imprinted genes on chromosome 1. |
| Databáze: | OpenAIRE |
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