Hermansky-Pudlak syndrome with a novel mutation

被引：3

作者：

Iwakawa, J ^{[1
]}

Matsuyama, W ^{[1
]}

Watanabe, M ^{[1
]}

Yamamoto, M ^{[1
]}

Oonakahara, K ^{[1
]}

Machida, K ^{[1
]}

Higashimoto, I ^{[1
]}

Niiyama, T ^{[1
]}

Osame, M ^{[1
]}

Arimura, K ^{[1
]}

机构：

[1] Kagoshima Univ Hosp, Div Resp Med, Resp & Stress Care Ctr, Kagoshima 8908520, Japan

来源：

INTERNAL MEDICINE | 2005年 / 44卷 / 07期

关键词：

HPS1; mutation; codon178; exon20;

D O I：

10.2169/internalmedicine.44.733

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：733 / 738

页数：6

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