Hermansky-Pudlak syndrome with a novel mutation.
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.
Iwakawa
Jun
J
Division of Respiratory Medicine, Respiratory and Stress Care Center, Kagoshima University Hospital, Kagoshima.
Matsuyama
Wataru
W
Watanabe
Masaki
M
Yamamoto
Masuki
M
Oonakahara
Ken-ichi
K
Machida
Kentarou
K
Higashimoto
Ikkou
I
Niiyama
Takahito
T
Osame
Mitsuhiro
M
Arimura
Kimiyoshi
K
D015897:Comorbidity; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D022861:Hermanski-Pudlak Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008168:Lung / Q000473:pathology; D017563:Lung Diseases, Interstitial / Q000453:epidemiology; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D017422:Sequence Analysis, DNA
C102160:HPS1 protein, human; D008565:Membrane Proteins