Iwakawa Jun, Matsuyama Wataru, Watanabe Masaki, Yamamoto Masuki, Oonakahara Ken-ichi, Machida Kentarou, Higashimoto Ikkou, Niiyama Takahito, Osame Mitsuhiro, Arimura Kimiyoshi
Division of Respiratory Medicine, Respiratory and Stress Care Center, Kagoshima University Hospital, Kagoshima.
Intern Med. 2005 Jul;44(7):733-8. doi: 10.2169/internalmedicine.44.733.
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.
我们报告了一例患有HPS1基因新突变的Hermansky-Pudlak综合征（HPS）病例。该病例表现为眼皮肤白化病和溶酶体类蜡质蓄积，但未观察到血小板功能障碍。活检肺组织的组织病理学结果与HPS相符。测序分析显示，HPS1基因第178密码子（739 bp）处插入了C，在第181密码子处形成了一个终止密码子。据我们所知，这是一种新的HPS1基因突变。
