Article

Hermansky-Pudlak syndrome with a novel mutation.

Division of Respiratory Medicine, Respiratory and Stress Care Center, Kagoshima University Hospital, Kagoshima.
Internal Medicine (impact factor: 0.94). 08/2005; 44(7):733-8. pp.733-8
Source: PubMed

ABSTRACT 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.

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Keywords

biopsied lung tissue
 
Histopathological findings
 
HPS
 
HPS1 gene
 
insertion
 
lysosomal ceroid accumulation
 
novel HPS1 gene mutation
 
platelet dysfunction
 
Sequencing analysis
 

Jun Iwakawa