Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot
Introduction Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases of hemophagocytosis. The disease is caused by mutations in RAB27A gene, coding a small GTPase involved in terminal phases of cytotoxic granule/melanosome exoc...
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| Veröffentlicht in: | Journal of clinical immunology 2008-07, Vol.28 (4), p.384-389 |
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| creator | Mamishi, Setareh Modarressi, Mohammad Hossein Pourakbari, Babak Tamizifar, Banafshe Mahjoub, Fatemeh Fahimzad, Alireza Alyasin, Soheila Bemanian, Mohamad Hassan Hamidiyeh, Amir Ali Fazlollahi, Mohammad Reza Ashrafi, Mahmoud Reza Isaeian, Anna Khotaei, Ghamartaj Yeganeh, Mehdi Parvaneh, Nima |
| description | Introduction
Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases of hemophagocytosis. The disease is caused by mutations in
RAB27A
gene, coding a small GTPase involved in terminal phases of cytotoxic granule/melanosome exocytosis.
Materials and methods
We describe the result of mutation analysis among nine patients from seven non-related Persian families. We present four novel mutations including a deletion hot spot (514del 5).
Conclusion
This hot spot is flanked by “direct repeats” of nucleotides, which are previously shown to be associated with areas of recurrent small deletions. |
| doi_str_mv | 10.1007/s10875-008-9192-5 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_20964202</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>20964202</sourcerecordid><originalsourceid>FETCH-LOGICAL-c466t-f8d9edc2df0e39d604fac15004d30901406bd7334e1c1a7cb18e6533ffbe91883</originalsourceid><addsrcrecordid>eNp1kN9L5DAQx4Oc6Kr3B9zLEe7Bt-okadL03tZVV8EfoN5zaJupVLrJXtIK-9-bpQuC4NPAzGe-M3wI-cXgjAEU55GBLmQGoLOSlTyTe2TGZCEyLkv-g8yAFyxNcn5IjmJ8AwChuDwgh0wLCVyqGannruo3sYvUt_RpfsGLOV2iQ9o5ugxdbLDvO_q8cTb4FdJhs0bK_9IH_449vR-Haui8i_TWNf1oO_dKK3qJPW679MYPce2HE7LfVn3En7t6TP5dX70sbrK7x-XtYn6XNblSQ9ZqW6JtuG0BRWkV5G3VMAmQWwElsBxUbQshcmQNq4qmZhqVFKJtayyZ1uKYnE656-D_jxgHs5r-rxz6MRoOpco58AT--QK--TEkD4lhSmvNC5UgNkFN8DEGbM06dKsqbAwDs7VvJvsm2Tdb-0amnd-74LFeof3c2OlOAJ-AmEbuFcPn5e9TPwAsqI4A</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>216888276</pqid></control><display><type>article</type><title>Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><creator>Mamishi, Setareh ; Modarressi, Mohammad Hossein ; Pourakbari, Babak ; Tamizifar, Banafshe ; Mahjoub, Fatemeh ; Fahimzad, Alireza ; Alyasin, Soheila ; Bemanian, Mohamad Hassan ; Hamidiyeh, Amir Ali ; Fazlollahi, Mohammad Reza ; Ashrafi, Mahmoud Reza ; Isaeian, Anna ; Khotaei, Ghamartaj ; Yeganeh, Mehdi ; Parvaneh, Nima</creator><creatorcontrib>Mamishi, Setareh ; Modarressi, Mohammad Hossein ; Pourakbari, Babak ; Tamizifar, Banafshe ; Mahjoub, Fatemeh ; Fahimzad, Alireza ; Alyasin, Soheila ; Bemanian, Mohamad Hassan ; Hamidiyeh, Amir Ali ; Fazlollahi, Mohammad Reza ; Ashrafi, Mahmoud Reza ; Isaeian, Anna ; Khotaei, Ghamartaj ; Yeganeh, Mehdi ; Parvaneh, Nima</creatorcontrib><description>Introduction
Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases of hemophagocytosis. The disease is caused by mutations in
RAB27A
gene, coding a small GTPase involved in terminal phases of cytotoxic granule/melanosome exocytosis.
Materials and methods
We describe the result of mutation analysis among nine patients from seven non-related Persian families. We present four novel mutations including a deletion hot spot (514del 5).
Conclusion
This hot spot is flanked by “direct repeats” of nucleotides, which are previously shown to be associated with areas of recurrent small deletions.</description><identifier>ISSN: 0271-9142</identifier><identifier>EISSN: 1573-2592</identifier><identifier>DOI: 10.1007/s10875-008-9192-5</identifier><identifier>PMID: 18350256</identifier><identifier>CODEN: JCIMDO</identifier><language>eng</language><publisher>Boston: Springer US</publisher><subject>Age of Onset ; Albinism - genetics ; Albinism - physiopathology ; Base Sequence ; Biomedical and Life Sciences ; Biomedicine ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Immunologic Deficiency Syndromes - genetics ; Immunologic Deficiency Syndromes - physiopathology ; Immunology ; Infant ; Infectious Diseases ; Internal Medicine ; Male ; Medical Microbiology ; Polymerase Chain Reaction ; rab GTP-Binding Proteins - genetics ; rab27 GTP-Binding Proteins ; Sequence Deletion - genetics ; Syndrome</subject><ispartof>Journal of clinical immunology, 2008-07, Vol.28 (4), p.384-389</ispartof><rights>Springer Science+Business Media, LLC 2008</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c466t-f8d9edc2df0e39d604fac15004d30901406bd7334e1c1a7cb18e6533ffbe91883</citedby><cites>FETCH-LOGICAL-c466t-f8d9edc2df0e39d604fac15004d30901406bd7334e1c1a7cb18e6533ffbe91883</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10875-008-9192-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10875-008-9192-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18350256$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mamishi, Setareh</creatorcontrib><creatorcontrib>Modarressi, Mohammad Hossein</creatorcontrib><creatorcontrib>Pourakbari, Babak</creatorcontrib><creatorcontrib>Tamizifar, Banafshe</creatorcontrib><creatorcontrib>Mahjoub, Fatemeh</creatorcontrib><creatorcontrib>Fahimzad, Alireza</creatorcontrib><creatorcontrib>Alyasin, Soheila</creatorcontrib><creatorcontrib>Bemanian, Mohamad Hassan</creatorcontrib><creatorcontrib>Hamidiyeh, Amir Ali</creatorcontrib><creatorcontrib>Fazlollahi, Mohammad Reza</creatorcontrib><creatorcontrib>Ashrafi, Mahmoud Reza</creatorcontrib><creatorcontrib>Isaeian, Anna</creatorcontrib><creatorcontrib>Khotaei, Ghamartaj</creatorcontrib><creatorcontrib>Yeganeh, Mehdi</creatorcontrib><creatorcontrib>Parvaneh, Nima</creatorcontrib><title>Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot</title><title>Journal of clinical immunology</title><addtitle>J Clin Immunol</addtitle><addtitle>J Clin Immunol</addtitle><description>Introduction
Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases of hemophagocytosis. The disease is caused by mutations in
RAB27A
gene, coding a small GTPase involved in terminal phases of cytotoxic granule/melanosome exocytosis.
Materials and methods
We describe the result of mutation analysis among nine patients from seven non-related Persian families. We present four novel mutations including a deletion hot spot (514del 5).
Conclusion
This hot spot is flanked by “direct repeats” of nucleotides, which are previously shown to be associated with areas of recurrent small deletions.</description><subject>Age of Onset</subject><subject>Albinism - genetics</subject><subject>Albinism - physiopathology</subject><subject>Base Sequence</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Humans</subject><subject>Immunologic Deficiency Syndromes - genetics</subject><subject>Immunologic Deficiency Syndromes - physiopathology</subject><subject>Immunology</subject><subject>Infant</subject><subject>Infectious Diseases</subject><subject>Internal Medicine</subject><subject>Male</subject><subject>Medical Microbiology</subject><subject>Polymerase Chain Reaction</subject><subject>rab GTP-Binding Proteins - genetics</subject><subject>rab27 GTP-Binding 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Deficiency Syndromes - genetics</topic><topic>Immunologic Deficiency Syndromes - physiopathology</topic><topic>Immunology</topic><topic>Infant</topic><topic>Infectious Diseases</topic><topic>Internal Medicine</topic><topic>Male</topic><topic>Medical Microbiology</topic><topic>Polymerase Chain Reaction</topic><topic>rab GTP-Binding Proteins - genetics</topic><topic>rab27 GTP-Binding Proteins</topic><topic>Sequence Deletion - genetics</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mamishi, Setareh</creatorcontrib><creatorcontrib>Modarressi, Mohammad Hossein</creatorcontrib><creatorcontrib>Pourakbari, Babak</creatorcontrib><creatorcontrib>Tamizifar, Banafshe</creatorcontrib><creatorcontrib>Mahjoub, Fatemeh</creatorcontrib><creatorcontrib>Fahimzad, Alireza</creatorcontrib><creatorcontrib>Alyasin, Soheila</creatorcontrib><creatorcontrib>Bemanian, Mohamad Hassan</creatorcontrib><creatorcontrib>Hamidiyeh, Amir 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Fatemeh</au><au>Fahimzad, Alireza</au><au>Alyasin, Soheila</au><au>Bemanian, Mohamad Hassan</au><au>Hamidiyeh, Amir Ali</au><au>Fazlollahi, Mohammad Reza</au><au>Ashrafi, Mahmoud Reza</au><au>Isaeian, Anna</au><au>Khotaei, Ghamartaj</au><au>Yeganeh, Mehdi</au><au>Parvaneh, Nima</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot</atitle><jtitle>Journal of clinical immunology</jtitle><stitle>J Clin Immunol</stitle><addtitle>J Clin Immunol</addtitle><date>2008-07-01</date><risdate>2008</risdate><volume>28</volume><issue>4</issue><spage>384</spage><epage>389</epage><pages>384-389</pages><issn>0271-9142</issn><eissn>1573-2592</eissn><coden>JCIMDO</coden><abstract>Introduction
Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases of hemophagocytosis. The disease is caused by mutations in
RAB27A
gene, coding a small GTPase involved in terminal phases of cytotoxic granule/melanosome exocytosis.
Materials and methods
We describe the result of mutation analysis among nine patients from seven non-related Persian families. We present four novel mutations including a deletion hot spot (514del 5).
Conclusion
This hot spot is flanked by “direct repeats” of nucleotides, which are previously shown to be associated with areas of recurrent small deletions.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>18350256</pmid><doi>10.1007/s10875-008-9192-5</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0271-9142 |
| ispartof | Journal of clinical immunology, 2008-07, Vol.28 (4), p.384-389 |
| issn | 0271-9142 1573-2592 |
| language | eng |
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| subjects | Age of Onset Albinism - genetics Albinism - physiopathology Base Sequence Biomedical and Life Sciences Biomedicine Child Child, Preschool DNA Mutational Analysis Female Humans Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - physiopathology Immunology Infant Infectious Diseases Internal Medicine Male Medical Microbiology Polymerase Chain Reaction rab GTP-Binding Proteins - genetics rab27 GTP-Binding Proteins Sequence Deletion - genetics Syndrome |
| title | Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot |
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