Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review
PSTPIP1‐associated myeloid‐related proteinaemia inflammatory (PAMI) syndrome has been described as a rare and distinct clinical phenotype of PSTPIP1‐associated inflammatory diseases. We report PSTPIP1 mutation in both father and son who have leukopenia and acne‐like lesions. Through whole‐exome sequ...
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| Veröffentlicht in: | Journal of dermatology 2021-04, Vol.48 (4), p.519-528 |
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| creator | Huang, Xiaowen Xu, Meinian Dai, Siqi Wang, Menglei Zheng, Huanxin Zeng, Kang Li, Li |
| description | PSTPIP1‐associated myeloid‐related proteinaemia inflammatory (PAMI) syndrome has been described as a rare and distinct clinical phenotype of PSTPIP1‐associated inflammatory diseases. We report PSTPIP1 mutation in both father and son who have leukopenia and acne‐like lesions. Through whole‐exome sequencing on blood DNA, it is found a heterozygous mutation of PSTPIP1 gene c.748G>A on the father and son. The diagnosis of PAMI is made based on DNA sequencing results and clinical characteristics of typical lesions, leukopenia, and the markedly increased serum S100A8/A9 (calprotectin). |
| doi_str_mv | 10.1111/1346-8138.15706 |
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We report PSTPIP1 mutation in both father and son who have leukopenia and acne‐like lesions. Through whole‐exome sequencing on blood DNA, it is found a heterozygous mutation of PSTPIP1 gene c.748G>A on the father and son. The diagnosis of PAMI is made based on DNA sequencing results and clinical characteristics of typical lesions, leukopenia, and the markedly increased serum S100A8/A9 (calprotectin).</description><identifier>ISSN: 0385-2407</identifier><identifier>EISSN: 1346-8138</identifier><identifier>DOI: 10.1111/1346-8138.15706</identifier><identifier>PMID: 33458872</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Acne ; Adaptor Proteins, Signal Transducing - genetics ; Case reports ; Cytoskeletal Proteins - genetics ; Deoxyribonucleic acid ; DNA ; DNA sequencing ; Fathers ; Genetic disorders ; Humans ; Inflammation - genetics ; Inflammatory diseases ; Leukopenia ; Literature reviews ; Male ; Metal Metabolism, Inborn Errors - genetics ; Missense mutation ; Mutation ; Mutation, Missense ; PAMI ; Phenotypes ; PSTPIP1 ; Skin diseases ; Syndrome</subject><ispartof>Journal of dermatology, 2021-04, Vol.48 (4), p.519-528</ispartof><rights>2021 Japanese Dermatological Association</rights><rights>2021 Japanese Dermatological Association.</rights><rights>Copyright © 2021 Japanese Dermatological Association</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3956-36a5de0168b4936fd055ade4dc1fa4ebc644a36a1089d8fc94bd90204645b4723</citedby><cites>FETCH-LOGICAL-c3956-36a5de0168b4936fd055ade4dc1fa4ebc644a36a1089d8fc94bd90204645b4723</cites><orcidid>0000-0003-4984-1698 ; 0000-0001-9313-1357 ; 0000-0003-3305-4817 ; 0000-0003-3939-293X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2F1346-8138.15706$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2F1346-8138.15706$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33458872$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Huang, Xiaowen</creatorcontrib><creatorcontrib>Xu, Meinian</creatorcontrib><creatorcontrib>Dai, Siqi</creatorcontrib><creatorcontrib>Wang, Menglei</creatorcontrib><creatorcontrib>Zheng, Huanxin</creatorcontrib><creatorcontrib>Zeng, Kang</creatorcontrib><creatorcontrib>Li, Li</creatorcontrib><title>Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review</title><title>Journal of dermatology</title><addtitle>J Dermatol</addtitle><description>PSTPIP1‐associated myeloid‐related proteinaemia inflammatory (PAMI) syndrome has been described as a rare and distinct clinical phenotype of PSTPIP1‐associated inflammatory diseases. We report PSTPIP1 mutation in both father and son who have leukopenia and acne‐like lesions. Through whole‐exome sequencing on blood DNA, it is found a heterozygous mutation of PSTPIP1 gene c.748G>A on the father and son. The diagnosis of PAMI is made based on DNA sequencing results and clinical characteristics of typical lesions, leukopenia, and the markedly increased serum S100A8/A9 (calprotectin).</description><subject>Acne</subject><subject>Adaptor Proteins, Signal Transducing - genetics</subject><subject>Case reports</subject><subject>Cytoskeletal Proteins - genetics</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA sequencing</subject><subject>Fathers</subject><subject>Genetic disorders</subject><subject>Humans</subject><subject>Inflammation - genetics</subject><subject>Inflammatory diseases</subject><subject>Leukopenia</subject><subject>Literature reviews</subject><subject>Male</subject><subject>Metal Metabolism, Inborn Errors - genetics</subject><subject>Missense mutation</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>PAMI</subject><subject>Phenotypes</subject><subject>PSTPIP1</subject><subject>Skin diseases</subject><subject>Syndrome</subject><issn>0385-2407</issn><issn>1346-8138</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkTlPxDAUhC0EguWo6ZAlGpqA79gl4lwEYsVRW078AkHZBOyEZf89XhYoaHBja_zNvCcNQruUHNJ0jigXKtOU60Mqc6JW0OhXWUUjwrXMmCD5BtqM8YUQZiQl62iDcyG1ztkIfdy5ALh0ESLuKjw5vhnjOG996KaA6xYXXf-MK9c_Q8Cu9Th2LZ7VSUsKji5B0zpGaGN6DL3r6_SfbJP7h8l4QvETtPDla-oeguuHNCzAew2zbbRWuSbCzve9hR7Pzx5OLrPr24vxyfF1VnIjVcaVkx4IVboQhqvKEymdB-FLWjkBRamEcAmiRBuvq9KIwhvCiFBCFiJnfAsdLHNfQ_c2QOxtWriEpnEtdEO0TOQ6z6VRJKH7f9CXbght2s4ySQxjhBqaqKMlVYYuxgCVfQ311IW5pcQuSrGLCuyiAvtVSnLsfecOxRT8L__TQgLkEpjVDcz_y7NXp2fL4E_LlZTy</recordid><startdate>202104</startdate><enddate>202104</enddate><creator>Huang, Xiaowen</creator><creator>Xu, Meinian</creator><creator>Dai, Siqi</creator><creator>Wang, Menglei</creator><creator>Zheng, Huanxin</creator><creator>Zeng, Kang</creator><creator>Li, Li</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-4984-1698</orcidid><orcidid>https://orcid.org/0000-0001-9313-1357</orcidid><orcidid>https://orcid.org/0000-0003-3305-4817</orcidid><orcidid>https://orcid.org/0000-0003-3939-293X</orcidid></search><sort><creationdate>202104</creationdate><title>Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review</title><author>Huang, Xiaowen ; Xu, Meinian ; Dai, Siqi ; Wang, Menglei ; Zheng, Huanxin ; Zeng, Kang ; Li, Li</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3956-36a5de0168b4936fd055ade4dc1fa4ebc644a36a1089d8fc94bd90204645b4723</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Acne</topic><topic>Adaptor Proteins, Signal Transducing - genetics</topic><topic>Case reports</topic><topic>Cytoskeletal Proteins - genetics</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA sequencing</topic><topic>Fathers</topic><topic>Genetic disorders</topic><topic>Humans</topic><topic>Inflammation - genetics</topic><topic>Inflammatory diseases</topic><topic>Leukopenia</topic><topic>Literature reviews</topic><topic>Male</topic><topic>Metal Metabolism, Inborn Errors - genetics</topic><topic>Missense mutation</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>PAMI</topic><topic>Phenotypes</topic><topic>PSTPIP1</topic><topic>Skin diseases</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Huang, Xiaowen</creatorcontrib><creatorcontrib>Xu, Meinian</creatorcontrib><creatorcontrib>Dai, Siqi</creatorcontrib><creatorcontrib>Wang, Menglei</creatorcontrib><creatorcontrib>Zheng, Huanxin</creatorcontrib><creatorcontrib>Zeng, Kang</creatorcontrib><creatorcontrib>Li, Li</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Huang, Xiaowen</au><au>Xu, Meinian</au><au>Dai, Siqi</au><au>Wang, Menglei</au><au>Zheng, Huanxin</au><au>Zeng, Kang</au><au>Li, Li</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review</atitle><jtitle>Journal of dermatology</jtitle><addtitle>J Dermatol</addtitle><date>2021-04</date><risdate>2021</risdate><volume>48</volume><issue>4</issue><spage>519</spage><epage>528</epage><pages>519-528</pages><issn>0385-2407</issn><eissn>1346-8138</eissn><abstract>PSTPIP1‐associated myeloid‐related proteinaemia inflammatory (PAMI) syndrome has been described as a rare and distinct clinical phenotype of PSTPIP1‐associated inflammatory diseases. We report PSTPIP1 mutation in both father and son who have leukopenia and acne‐like lesions. Through whole‐exome sequencing on blood DNA, it is found a heterozygous mutation of PSTPIP1 gene c.748G>A on the father and son. The diagnosis of PAMI is made based on DNA sequencing results and clinical characteristics of typical lesions, leukopenia, and the markedly increased serum S100A8/A9 (calprotectin).</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>33458872</pmid><doi>10.1111/1346-8138.15706</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0003-4984-1698</orcidid><orcidid>https://orcid.org/0000-0001-9313-1357</orcidid><orcidid>https://orcid.org/0000-0003-3305-4817</orcidid><orcidid>https://orcid.org/0000-0003-3939-293X</orcidid></addata></record> |
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| subjects | Acne Adaptor Proteins, Signal Transducing - genetics Case reports Cytoskeletal Proteins - genetics Deoxyribonucleic acid DNA DNA sequencing Fathers Genetic disorders Humans Inflammation - genetics Inflammatory diseases Leukopenia Literature reviews Male Metal Metabolism, Inborn Errors - genetics Missense mutation Mutation Mutation, Missense PAMI Phenotypes PSTPIP1 Skin diseases Syndrome |
| title | Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review |
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