Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome

Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding disorder, and visual abnormalities. Eleven patients from eight unrelated families with an incoming diagnosis of albinism were examined and novel and previously described genetic variants in <i>HPS1</i>, <i>HPS6</i>, and <i>BLOC1S6</i> genes (types HPS1, HPS6, and HPS9) were found. To determine the optimal therapy and recommendations for further follow up, it is necessary to consider the entire clinical spectrum and genetic polymorphism of the disease. An interdisciplinary approach, combined with the use of non-routine diagnostic techniques such as RNA analysis, is essential for achieving accurate diagnoses in certain complex cases.

Authors

Institutions

Publication Details

Journal
International Journal of Molecular Sciences
Published
2024-10-19
DOI
https://doi.org/10.3390/ijms252011260
Citations
2
Primary Topic
melanin and skin pigmentation
Type
article
Field-Weighted Citation Impact
0.65
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome

Tatyana A. Vasilyeva, Andrey V. Marakhonov, Iuliia V. Viakhireva, Р. А. Зинченко et al.
2 citations
International Journal of Molecular Sciences
melanin and skin pigmentation
0.65
article

Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome

Tatyana A. Vasilyeva, Andrey V. Marakhonov, Iuliia V. Viakhireva, Р. А. Зинченко, Olga Shchagina, Sofya Ionova, Peter Sparber, Alexandra Filatova, В. В. Кадышев, Natella V. Sukhanova, Natalia V. Zhurkova, Sergey I. Kutsev, Anastasia M. Bobreshova
article en
2 citations

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding disorder, and visual abnormalities. Eleven patients from eight unrelated families with an incoming diagnosis of albinism were examined and novel and previously described genetic variants in <i>HPS1</i>, <i>HPS6</i>, and <i>BLOC1S6</i> genes (types HPS1, HPS6, and HPS9) were found. To determine the optimal therapy and recommendations for further follow up, it is necessary to consider the entire clinical spectrum and genetic polymorphism of the disease. An interdisciplinary approach, combined with the use of non-routine diagnostic techniques such as RNA analysis, is essential for achieving accurate diagnoses in certain complex cases.

International Journal of Molecular SciencesVol. 25(20)
Research Centre for Medical Genetics (RU), Russian Scientific Center of Surgery (RU)
Openalex Percentile: Top 32%
melanin and skin pigmentation
0.65
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.