Dominant Stickler Syndrome
The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pat...
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| Veröffentlicht in: | Genes 2022-06, Vol.13 (6), p.1089 |
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| creator | Soh, Zack Richards, Allan J McNinch, Annie Alexander, Philip Martin, Howard Snead, Martin P |
| description | The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pathogenic variants in
causing Stickler syndrome usually result in haploinsufficiency of the protein, whereas pathogenic variants of type XI collagen more usually exert dominant negative effects. The severity of the disease phenotype is thus dependent on the location and nature of the mutation, as well as the normal developmental role of the respective protein. |
| doi_str_mv | 10.3390/genes13061089 |
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causing Stickler syndrome usually result in haploinsufficiency of the protein, whereas pathogenic variants of type XI collagen more usually exert dominant negative effects. The severity of the disease phenotype is thus dependent on the location and nature of the mutation, as well as the normal developmental role of the respective protein.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes13061089</identifier><identifier>PMID: 35741851</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Arthritis ; Arthritis - genetics ; Birth defects ; Cartilage ; Cleft lip/palate ; Collagen ; Congenital diseases ; Connective tissue ; Connective Tissue Diseases - genetics ; Connective Tissue Diseases - pathology ; Connective tissues ; Craniofacial Abnormalities ; Deafness ; Eye Diseases, Hereditary ; Genes ; Genotype & phenotype ; Haploinsufficiency ; Hearing loss ; Hearing Loss, Sensorineural ; Humans ; Marfan syndrome ; Osteochondrodysplasias ; Pedigree ; Phenotypes ; Retinal detachment ; Retinal Detachment - genetics ; Retinal Detachment - pathology ; Review</subject><ispartof>Genes, 2022-06, Vol.13 (6), p.1089</ispartof><rights>2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2022 by the authors. 2022</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3309-97f5c2ab3dc5a4bbdcf062f5a09e10e6db3aee16da03d0de6d18509653fa5aee3</citedby><cites>FETCH-LOGICAL-c3309-97f5c2ab3dc5a4bbdcf062f5a09e10e6db3aee16da03d0de6d18509653fa5aee3</cites><orcidid>0000-0002-1618-7557 ; 0000-0002-4226-6005 ; 0000-0003-0042-8659 ; 0000-0002-2399-4154</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/PMC9222743/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222743/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35741851$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Soh, Zack</creatorcontrib><creatorcontrib>Richards, Allan J</creatorcontrib><creatorcontrib>McNinch, Annie</creatorcontrib><creatorcontrib>Alexander, Philip</creatorcontrib><creatorcontrib>Martin, Howard</creatorcontrib><creatorcontrib>Snead, Martin P</creatorcontrib><title>Dominant Stickler Syndrome</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pathogenic variants in
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Richards, Allan J ; McNinch, Annie ; Alexander, Philip ; Martin, Howard ; Snead, Martin P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3309-97f5c2ab3dc5a4bbdcf062f5a09e10e6db3aee16da03d0de6d18509653fa5aee3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Arthritis</topic><topic>Arthritis - genetics</topic><topic>Birth defects</topic><topic>Cartilage</topic><topic>Cleft lip/palate</topic><topic>Collagen</topic><topic>Congenital diseases</topic><topic>Connective tissue</topic><topic>Connective Tissue Diseases - genetics</topic><topic>Connective Tissue Diseases - pathology</topic><topic>Connective tissues</topic><topic>Craniofacial Abnormalities</topic><topic>Deafness</topic><topic>Eye Diseases, Hereditary</topic><topic>Genes</topic><topic>Genotype & phenotype</topic><topic>Haploinsufficiency</topic><topic>Hearing loss</topic><topic>Hearing Loss, Sensorineural</topic><topic>Humans</topic><topic>Marfan syndrome</topic><topic>Osteochondrodysplasias</topic><topic>Pedigree</topic><topic>Phenotypes</topic><topic>Retinal detachment</topic><topic>Retinal Detachment - genetics</topic><topic>Retinal Detachment - pathology</topic><topic>Review</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Soh, Zack</creatorcontrib><creatorcontrib>Richards, Allan J</creatorcontrib><creatorcontrib>McNinch, Annie</creatorcontrib><creatorcontrib>Alexander, Philip</creatorcontrib><creatorcontrib>Martin, Howard</creatorcontrib><creatorcontrib>Snead, Martin P</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Soh, Zack</au><au>Richards, Allan J</au><au>McNinch, Annie</au><au>Alexander, Philip</au><au>Martin, Howard</au><au>Snead, Martin P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Dominant Stickler Syndrome</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2022-06-18</date><risdate>2022</risdate><volume>13</volume><issue>6</issue><spage>1089</spage><pages>1089-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pathogenic variants in
causing Stickler syndrome usually result in haploinsufficiency of the protein, whereas pathogenic variants of type XI collagen more usually exert dominant negative effects. The severity of the disease phenotype is thus dependent on the location and nature of the mutation, as well as the normal developmental role of the respective protein.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>35741851</pmid><doi>10.3390/genes13061089</doi><orcidid>https://orcid.org/0000-0002-1618-7557</orcidid><orcidid>https://orcid.org/0000-0002-4226-6005</orcidid><orcidid>https://orcid.org/0000-0003-0042-8659</orcidid><orcidid>https://orcid.org/0000-0002-2399-4154</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MDPI - Multidisciplinary Digital Publishing Institute; MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; PubMed Central Open Access |
| subjects | Arthritis Arthritis - genetics Birth defects Cartilage Cleft lip/palate Collagen Congenital diseases Connective tissue Connective Tissue Diseases - genetics Connective Tissue Diseases - pathology Connective tissues Craniofacial Abnormalities Deafness Eye Diseases, Hereditary Genes Genotype & phenotype Haploinsufficiency Hearing loss Hearing Loss, Sensorineural Humans Marfan syndrome Osteochondrodysplasias Pedigree Phenotypes Retinal detachment Retinal Detachment - genetics Retinal Detachment - pathology Review |
| title | Dominant Stickler Syndrome |
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