Hermansky-Pudlak syndrome: Mutation update.
Hermansky-Pudlak syndrome: Mutation update.
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DOI：
10.1002/humu.23968
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发表时间：
2020-03
期刊：
影响因子：
3.9
通讯作者：
Gochuico BR
中科院分区：
文献类型：
--
作者：
Huizing M;Malicdan MCV;Wang JA;Pri-Chen H;Hess RA;Fischer R;O'Brien KJ;Merideth MA;Gahl WA;Gochuico BR
Hermansky–Pudlak syndrome (HPS) is a group of ten autosomal recessive multisystem disorders, each defined by deficiency of a specific gene. HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor Protein (AP)-3 and Biogenesis of Lysosome-related Organelles Complex (BLOC)-1 through −3. All individuals with HPS exhibit albinism and a bleeding diathesis; additional features occur depending on the defective protein complex. Pulmonary fibrosis is associated with AP-3 and BLOC-3 deficiency, immunodeficiency with AP-3 defects, and gastrointestinal symptoms are more prevalent and severe in BLOC-3 deficiency. Therefore, identification of the HPS subtype is valuable for prognosis, clinical management and treatment options. The prevalence of HPS is estimated at 1–9 per 1,000,000. Here we summarize 264 reported and novel variants in ten HPS genes and estimate that ~333 Puerto Rican HPS subjects and ~385 with other ethnicities are reported to date. We provide pathogenicity predictions for missense and splice site variants and list variants with high minor allele frequencies (MAF). Current cellular and clinical aspects of HPS are also summarized. This review can serve as a manifest for molecular diagnostic and genetic counseling aspects of Hermansky-Pudlak syndrome.
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影响因子：
6.5
作者：
Carmona-Rivera, Carmelo;Golas, Gretchen;Hess, Richard A.;Cardillo, Nicholas D.;Martin, Elijah H.;O'Brien, Kevin;Tsilou, Ekaterini;Gochuico, Bernadette R.;White, James G.;Huizing, Marjan;Gahl, William A.
通讯作者：
Gahl, William A.
影响因子：
3.8
作者：
Bryan MM;Tolman NJ;Simon KL;Huizing M;Hufnagel RB;Brooks BP;Speransky V;Mullikin JC;Gahl WA;Malicdan MCV;Gochuico BR
通讯作者：
Gochuico BR
影响因子：
1.3
作者：
Christensen, Stacy;Wagner, Linda;Appell, Donna
通讯作者：
Appell, Donna
影响因子：
3.3
作者：
Daly, Christina M. S.;Willer, Jason;Gross, Jeffrey M.
通讯作者：
Gross, Jeffrey M.
影响因子：
30.5
作者：
Clark, RH;Stinchcombe, JC;Griffiths, GM
通讯作者：
Griffiths, GM