The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2
Key Clinical Message We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that t...
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| Veröffentlicht in: | Clinical case reports 2018-09, Vol.6 (9), p.1815-1817 |
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| container_title | Clinical case reports |
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| creator | Shakir, Aamina Wadley, Alexandrea F. Purcarin, Gabriela Wierenga, Klaas J. |
| description | Key Clinical Message
We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.
We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance. |
| doi_str_mv | 10.1002/ccr3.1719 |
| format | Article |
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We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.
We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.</description><identifier>ISSN: 2050-0904</identifier><identifier>EISSN: 2050-0904</identifier><identifier>DOI: 10.1002/ccr3.1719</identifier><identifier>PMID: 30214770</identifier><language>eng</language><publisher>England: John Wiley and Sons Inc</publisher><subject>Case Report ; Case Reports ; deafness‐dystonia syndrome ; FITM2 ; Siddiqi syndrome</subject><ispartof>Clinical case reports, 2018-09, Vol.6 (9), p.1815-1817</ispartof><rights>2018 The Authors. published by John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><orcidid>0000-0002-9398-3047 ; 0000-0002-6623-3881</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132111/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132111/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,1417,11562,27924,27925,45574,45575,46052,46476,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30214770$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shakir, Aamina</creatorcontrib><creatorcontrib>Wadley, Alexandrea F.</creatorcontrib><creatorcontrib>Purcarin, Gabriela</creatorcontrib><creatorcontrib>Wierenga, Klaas J.</creatorcontrib><title>The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2</title><title>Clinical case reports</title><addtitle>Clin Case Rep</addtitle><description>Key Clinical Message
We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.
We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.</description><subject>Case Report</subject><subject>Case Reports</subject><subject>deafness‐dystonia syndrome</subject><subject>FITM2</subject><subject>Siddiqi syndrome</subject><issn>2050-0904</issn><issn>2050-0904</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><recordid>eNpVkd9KwzAYxYMobsxd-AKSF6j7kvRfbgQpTgcTQealhLRJt8iajKad1CsfwWf0SVyZjnn1HTjn_C6-g9AlgWsCQCdFUbNrkhB-goYUIgiAQ3h6pAdo7P0bABBIaETgHA0YUBImCQzR62KlcWlq3-BCeo1diZWWpdXef39-qc43zhqJfWdV7SqNVatx43Dhqo1rrcIr3ejafXRL13q8lbWRtvHYWDydLR7pBTor5drr8e8doZfp3SJ7COZP97Psdh5sGKQ8UAnkNNYqloUuQqYgiSWLmJKE8xJYFNKU0DIOGSkTnnO60zKVORRJzngKORuhmz130-aVVoW2TS3XYlObStadcNKI_441K7F0WxETRgkhO8DVMeDQ_HvULjDZB97NWncHn4DoRxD9CKIfQWTZM-sF-wEYFHuo</recordid><startdate>201809</startdate><enddate>201809</enddate><creator>Shakir, Aamina</creator><creator>Wadley, Alexandrea F.</creator><creator>Purcarin, Gabriela</creator><creator>Wierenga, Klaas J.</creator><general>John Wiley and Sons Inc</general><scope>24P</scope><scope>WIN</scope><scope>NPM</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-9398-3047</orcidid><orcidid>https://orcid.org/0000-0002-6623-3881</orcidid></search><sort><creationdate>201809</creationdate><title>The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2</title><author>Shakir, Aamina ; Wadley, Alexandrea F. ; Purcarin, Gabriela ; Wierenga, Klaas J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p3089-d70b26ed6acec43d076a353da199f03542812f6431f79b922f6a8ab0c7b3980b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Case Report</topic><topic>Case Reports</topic><topic>deafness‐dystonia syndrome</topic><topic>FITM2</topic><topic>Siddiqi syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shakir, Aamina</creatorcontrib><creatorcontrib>Wadley, Alexandrea F.</creatorcontrib><creatorcontrib>Purcarin, Gabriela</creatorcontrib><creatorcontrib>Wierenga, Klaas J.</creatorcontrib><collection>Wiley Online Library (Open Access Collection)</collection><collection>Wiley Online Library (Open Access Collection)</collection><collection>PubMed</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Clinical case reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shakir, Aamina</au><au>Wadley, Alexandrea F.</au><au>Purcarin, Gabriela</au><au>Wierenga, Klaas J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2</atitle><jtitle>Clinical case reports</jtitle><addtitle>Clin Case Rep</addtitle><date>2018-09</date><risdate>2018</risdate><volume>6</volume><issue>9</issue><spage>1815</spage><epage>1817</epage><pages>1815-1817</pages><issn>2050-0904</issn><eissn>2050-0904</eissn><abstract>Key Clinical Message
We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.
We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.</abstract><cop>England</cop><pub>John Wiley and Sons Inc</pub><pmid>30214770</pmid><doi>10.1002/ccr3.1719</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0002-9398-3047</orcidid><orcidid>https://orcid.org/0000-0002-6623-3881</orcidid><oa>free_for_read</oa></addata></record> |
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| language | eng |
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| source | DOAJ Directory of Open Access Journals; Access via Wiley Online Library; EZB-FREE-00999 freely available EZB journals; Wiley Online Library (Open Access Collection); PubMed Central |
| subjects | Case Report Case Reports deafness‐dystonia syndrome FITM2 Siddiqi syndrome |
| title | The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2 |
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