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Complete Paternal Uniparental Isodisomy of Chromosome 1: A Novel Mechanism for Herlitz Junctional Epidermolysis Bullosa by Takizawa, Yasuko; Pulkkinen, Leena; Chao, Sheau-Chiou; Nakajima, Hiromichi; Nakano, Yasushi; Shimizu, Hiroshi; Uitto, Jouni is a Medicine article available to read on EtoBox.
What is Complete Paternal Uniparental Isodisomy of Chromosome 1: A Novel Mechanism for Herlitz Junctional Epidermolysis Bullosa about?
Uniparental disomy denotes a situation when an individual has inherited two copies of a specific chromosome from a single parent. Uniparental disomy has been demonstrated to be involved in the pathogenesis of recessively inherited diseases in rare cases. Here we report a patient of Japanese origin with Herlitz junctional epidermolysis bullosa (OMIM no. 226700), who died at the age of 8 mo from complications of the disease. The mutation analysis revealed that the proband was homozygous for a nonsense mutation C553X in the LAMC2 gene encoding the gamma2 chain of laminin 5. The father was a heterozygous carrier of this mutation whereas the mother had two normal alleles of this gene. The patient showed homozygosity for 15 known intragenic polymorphisms in the LAMC2 gene. Furthermore, genotype analysis, performed from the parents and the proband, using 16 microsatellite markers spanning the entire chromosome 1, revealed that the patient was homozygous for all markers tested, and that these alleles originated from the father. Among the 16 markers, eight were fully informative for the absence of the maternal chromosome 1 in the proband, suggesting that the patient had complete paternal is
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- Author
- Takizawa, Yasuko; Pulkkinen, Leena; Chao, Sheau-Chiou; Nakajima, Hiromichi; Nakano, Yasushi; Shimizu, Hiroshi; Uitto, Jouni
- Publisher
- Nature Publishing Group; Elsevier ; Elsevier Inc.; Elsevier BV; Springer Science and Business Media LLC; Wiley (ISSN 0022-202X)
- Published
- 2000
- Language
- EN
- Field
- Medicine (Health Sciences)