Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review
Primary cilia are a component of almost all vertebrate cells with a crucial role in sensing and transducing environmental signals during tissue development. Their dysfunction is known as ciliopathies and can manifest with a wide spectrum of clinical disorders. Overlapping features and molecular hete...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2022-06, Vol.188 (6), p.1826-1830 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Huljev Frković, Sanda Vičić, Ana Crkvenac Gornik, Kristina Kulišić, Dinko Stipoljev, Feodora |
| description | Primary cilia are a component of almost all vertebrate cells with a crucial role in sensing and transducing environmental signals during tissue development. Their dysfunction is known as ciliopathies and can manifest with a wide spectrum of clinical disorders. Overlapping features and molecular heterogeneity of ciliopathies make diagnoses distinctly challenging. In this group of diseases, tectonic genes, and their mutations play an important role. We present a first‐trimester fetus with occipital encephalocele and OFD type IV caused by TCTN3 compound heterozygous pathogenic variants: c.1423_1429del (p.Arg475Serfs*10) and c.3G>A (initiator codon). A severe arm anomaly was described in our case, with two fingers along the atrophic forearm and polydactyly on other limbs. This could be a new phenotypic characteristic contributing to further understanding of TCTN3‐related disorders as well as other tectonic proteins in ciliopathy spectrum diseases. |
| doi_str_mv | 10.1002/ajmg.a.62684 |
| format | Article |
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Their dysfunction is known as ciliopathies and can manifest with a wide spectrum of clinical disorders. Overlapping features and molecular heterogeneity of ciliopathies make diagnoses distinctly challenging. In this group of diseases, tectonic genes, and their mutations play an important role. We present a first‐trimester fetus with occipital encephalocele and OFD type IV caused by TCTN3 compound heterozygous pathogenic variants: c.1423_1429del (p.Arg475Serfs*10) and c.3G>A (initiator codon). A severe arm anomaly was described in our case, with two fingers along the atrophic forearm and polydactyly on other limbs. 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Part A</title><addtitle>Am J Med Genet A</addtitle><description>Primary cilia are a component of almost all vertebrate cells with a crucial role in sensing and transducing environmental signals during tissue development. Their dysfunction is known as ciliopathies and can manifest with a wide spectrum of clinical disorders. Overlapping features and molecular heterogeneity of ciliopathies make diagnoses distinctly challenging. In this group of diseases, tectonic genes, and their mutations play an important role. We present a first‐trimester fetus with occipital encephalocele and OFD type IV caused by TCTN3 compound heterozygous pathogenic variants: c.1423_1429del (p.Arg475Serfs*10) and c.3G>A (initiator codon). A severe arm anomaly was described in our case, with two fingers along the atrophic forearm and polydactyly on other limbs. This could be a new phenotypic characteristic contributing to further understanding of TCTN3‐related disorders as well as other tectonic proteins in ciliopathy spectrum diseases.</description><subject>Case reports</subject><subject>Cilia</subject><subject>Ciliopathies - genetics</subject><subject>ciliopathy</subject><subject>Encephalocele</subject><subject>Encephalocele - diagnostic imaging</subject><subject>Encephalocele - genetics</subject><subject>Fetus - abnormalities</subject><subject>Fetuses</subject><subject>Forearm</subject><subject>Humans</subject><subject>Literature reviews</subject><subject>Mutation</subject><subject>occipital encephalocele</subject><subject>Orofaciodigital syndrome type IV</subject><subject>Polydactyly</subject><subject>Polydactyly - pathology</subject><subject>prenatal</subject><subject>TCTN3</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90Ttv2zAUBWAiaNA82i1zQKBLhtjlSxTdzTDatEH6GLwTN9RVTIMWVZKy4X9fuU4ydOhEgvxwcC8OIVecTTlj4iOsN09TmGqhjToh57yqxEQZKd-83kV1Ri5yXjMmWVXrt-RMVrxm3MzOye5Xwg4KhLCnDRZ0BRuKncN-BSE6DEgh5-g8HD52vqwo0C5uMdAeyio-YecdXS6WPyTdQvLQlU90Th1kpAn7mAqFrqHBF0xQhnR43XrcvSOnLYSM75_PS7L88nm5-Dp5-Hn3bTF_mDiplZpw3SqpBdaqHWc3M4fS1Y2aaeCuUgwd1tDKR3CsNq1zTtZC68roFhxwFPKS3Bxj-xR_D5iL3fg8bhWgwzhkK7SYSWOk0CP98A9dxyF143Cj0qrm0mg5qtujcinmnLC1ffIbSHvLmT30YQ99WLB_-xj59XPo8LjB5hW_FDACdQQ7H3D_3zA7v_9-Nz_m_gExe5fw</recordid><startdate>202206</startdate><enddate>202206</enddate><creator>Huljev Frković, Sanda</creator><creator>Vičić, Ana</creator><creator>Crkvenac Gornik, Kristina</creator><creator>Kulišić, Dinko</creator><creator>Stipoljev, Feodora</creator><general>John Wiley & Sons, Inc</general><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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-3962-0269</orcidid><orcidid>https://orcid.org/0000-0003-1513-2965</orcidid></search><sort><creationdate>202206</creationdate><title>Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review</title><author>Huljev Frković, Sanda ; Vičić, Ana ; Crkvenac Gornik, Kristina ; Kulišić, Dinko ; Stipoljev, Feodora</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3644-16f4362e74f30589ce3c7d496a1c540ece7af3bac078fccc37266586faca1e23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Case reports</topic><topic>Cilia</topic><topic>Ciliopathies - genetics</topic><topic>ciliopathy</topic><topic>Encephalocele</topic><topic>Encephalocele - diagnostic imaging</topic><topic>Encephalocele - genetics</topic><topic>Fetus - abnormalities</topic><topic>Fetuses</topic><topic>Forearm</topic><topic>Humans</topic><topic>Literature reviews</topic><topic>Mutation</topic><topic>occipital encephalocele</topic><topic>Orofaciodigital syndrome type IV</topic><topic>Polydactyly</topic><topic>Polydactyly - pathology</topic><topic>prenatal</topic><topic>TCTN3</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Huljev Frković, Sanda</creatorcontrib><creatorcontrib>Vičić, Ana</creatorcontrib><creatorcontrib>Crkvenac Gornik, Kristina</creatorcontrib><creatorcontrib>Kulišić, Dinko</creatorcontrib><creatorcontrib>Stipoljev, Feodora</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Huljev Frković, Sanda</au><au>Vičić, Ana</au><au>Crkvenac Gornik, Kristina</au><au>Kulišić, Dinko</au><au>Stipoljev, Feodora</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2022-06</date><risdate>2022</risdate><volume>188</volume><issue>6</issue><spage>1826</spage><epage>1830</epage><pages>1826-1830</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Primary cilia are a component of almost all vertebrate cells with a crucial role in sensing and transducing environmental signals during tissue development. Their dysfunction is known as ciliopathies and can manifest with a wide spectrum of clinical disorders. Overlapping features and molecular heterogeneity of ciliopathies make diagnoses distinctly challenging. In this group of diseases, tectonic genes, and their mutations play an important role. We present a first‐trimester fetus with occipital encephalocele and OFD type IV caused by TCTN3 compound heterozygous pathogenic variants: c.1423_1429del (p.Arg475Serfs*10) and c.3G>A (initiator codon). A severe arm anomaly was described in our case, with two fingers along the atrophic forearm and polydactyly on other limbs. 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| subjects | Case reports Cilia Ciliopathies - genetics ciliopathy Encephalocele Encephalocele - diagnostic imaging Encephalocele - genetics Fetus - abnormalities Fetuses Forearm Humans Literature reviews Mutation occipital encephalocele Orofaciodigital syndrome type IV Polydactyly Polydactyly - pathology prenatal TCTN3 |
| title | Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review |
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