Hermansky-Pudlak syndrome with a novel mutation
| Autor: | Masaki Watanabe, Ken-ichi Oonakahara, Mitsuhiro Osame, Takahito Niiyama, Jun Iwakawa, Kimiyoshi Arimura, Masuki Yamamoto, Ikkou Higashimoto, Wataru Matsuyama, Kentarou Machida |
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| Rok vydání: | 2005 |
| Předmět: |
Sequence analysis
Comorbidity Gene mutation Internal Medicine Medicine Missense mutation Humans Frameshift Mutation Gene Lung Genetics business.industry Membrane Proteins General Medicine Sequence Analysis DNA Middle Aged medicine.disease Oculocutaneous albinism eye diseases Stop codon Hermanski-Pudlak Syndrome Mutation (genetic algorithm) Female Hermansky–Pudlak syndrome business Lung Diseases Interstitial |
| Zdroj: | Internal medicine (Tokyo, Japan). 44(7) |
| ISSN: | 0918-2918 |
| Popis: | We report a case of Hermansky-Pudlak syndrome (HPS) with a novel mutation in the HPS1 gene. This case showed oculocutaneous albinism and lysosomal ceroid accumulation, however platelet dysfunction was not observed. Histopathological findings of the biopsied lung tissue were compatible with HPS. Sequencing analysis showed the insertion of C in the codon 178 (739 bp) of the HPS1 gene forming a stop codon at codon 181. To the best of our knowledge, this is a novel HPS1 gene mutation. |
| Databáze: | OpenAIRE |
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