PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants i...
Gespeichert in:
| Veröffentlicht in: | Human genetics 2023-04, Vol.142 (4), p.477-482 |
|---|---|
| Hauptverfasser: | , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 482 |
|---|---|
| container_issue | 4 |
| container_start_page | 477 |
| container_title | Human genetics |
| container_volume | 142 |
| creator | Shamseldin, Hanan E. Derar, Nada Alzaidan, Hamad AlHathal, Naif Alfalah, Abdullah Abdulwahab, Firdous Alzaid, Tariq Alkeraye, Salim Alobaida, Saud A. Alkuraya, Fowzan S. |
| description | Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in
PRSS8
(encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of
Prss8
knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel
PRSS8
-related ichthyosis disorder. |
| doi_str_mv | 10.1007/s00439-023-02527-3 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_2771088993</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A743619694</galeid><sourcerecordid>A743619694</sourcerecordid><originalsourceid>FETCH-LOGICAL-c476t-f7fdca117ed62ab50a1616ae46beb3135baec6710d88ce963fdfb8028a39f2ee3</originalsourceid><addsrcrecordid>eNp9kV9rFDEUxYNY7Fr9Aj5IwBeFTs2_mWQeS9FaKChd-xwymTu7KTOZdW6m2m9vtltbVkRCCNz8zuUcDiFvODvhjOmPyJiSdcGEzLcUupDPyIIrKQoumHxOFkwqVlSa60PyEvGGMV7WonxBDmUelrpUC3L97Wq5NMcUoh_bEFd0M42YHIZ4TAPSYU4uQUtDpBuXAsSE9GdIa-rmNOI4uJ5O4AEx3AINfp3WdyMGfEUOOtcjvH54j8j150_fz74Ul1_PL85OLwuvdJWKTnetd5xraCvhmpI5XvHKgaoaaCSXZePAZ6usNcZDXcmu7RrDhHGy7gSAPCLvd3uz6x8zYLJDQA997yKMM1qhs9iYupYZffcXejPOU8zuMlULrpUR5olauR5siN2YJue3S-2pVrLidVWrTJ38g8qnhSH4MUIX8nxP8GFPkJkEv9LKzYj2Ynm1z4od63MTOEFnN1MY3HRnObPb3u2ud5t7t_e92226tw_p5maA9lHyp-gMyB2A-SuuYHqK_5-1vwGEb7ZP</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2792174828</pqid></control><display><type>article</type><title>PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><creator>Shamseldin, Hanan E. ; Derar, Nada ; Alzaidan, Hamad ; AlHathal, Naif ; Alfalah, Abdullah ; Abdulwahab, Firdous ; Alzaid, Tariq ; Alkeraye, Salim ; Alobaida, Saud A. ; Alkuraya, Fowzan S.</creator><creatorcontrib>Shamseldin, Hanan E. ; Derar, Nada ; Alzaidan, Hamad ; AlHathal, Naif ; Alfalah, Abdullah ; Abdulwahab, Firdous ; Alzaid, Tariq ; Alkeraye, Salim ; Alobaida, Saud A. ; Alkuraya, Fowzan S.</creatorcontrib><description>Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in
PRSS8
(encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of
Prss8
knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel
PRSS8
-related ichthyosis disorder.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s00439-023-02527-3</identifier><identifier>PMID: 36715754</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Animals ; Biomedical and Life Sciences ; Biomedicine ; Care and treatment ; Chromosome 16 ; Dermatology ; Ethylenediaminetetraacetic acid ; Families & family life ; Family ; Fibroblasts ; Gene Function ; Gene mapping ; Genes ; Genetic aspects ; Genetic disorders ; Genetic testing ; Genodermatosis ; Genomics ; Genotype & phenotype ; Human Genetics ; Humans ; Ichthyosis ; Ichthyosis - genetics ; Kidneys ; Medical colleges ; Medicine ; Metabolic Diseases ; Mice ; Mice, Knockout ; Molecular Medicine ; Mutation ; Mutation, Missense ; Original Investigation ; Pedigree ; Phenotype ; Phenotypes ; Research centers ; Serine Endopeptidases - genetics ; Skin</subject><ispartof>Human genetics, 2023-04, Vol.142 (4), p.477-482</ispartof><rights>The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.</rights><rights>COPYRIGHT 2023 Springer</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c476t-f7fdca117ed62ab50a1616ae46beb3135baec6710d88ce963fdfb8028a39f2ee3</citedby><cites>FETCH-LOGICAL-c476t-f7fdca117ed62ab50a1616ae46beb3135baec6710d88ce963fdfb8028a39f2ee3</cites><orcidid>0000-0003-4158-341X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00439-023-02527-3$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00439-023-02527-3$$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/36715754$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shamseldin, Hanan E.</creatorcontrib><creatorcontrib>Derar, Nada</creatorcontrib><creatorcontrib>Alzaidan, Hamad</creatorcontrib><creatorcontrib>AlHathal, Naif</creatorcontrib><creatorcontrib>Alfalah, Abdullah</creatorcontrib><creatorcontrib>Abdulwahab, Firdous</creatorcontrib><creatorcontrib>Alzaid, Tariq</creatorcontrib><creatorcontrib>Alkeraye, Salim</creatorcontrib><creatorcontrib>Alobaida, Saud A.</creatorcontrib><creatorcontrib>Alkuraya, Fowzan S.</creatorcontrib><title>PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><addtitle>Hum Genet</addtitle><description>Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in
PRSS8
(encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of
Prss8
knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel
PRSS8
-related ichthyosis disorder.</description><subject>Animals</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Care and treatment</subject><subject>Chromosome 16</subject><subject>Dermatology</subject><subject>Ethylenediaminetetraacetic acid</subject><subject>Families & family life</subject><subject>Family</subject><subject>Fibroblasts</subject><subject>Gene Function</subject><subject>Gene mapping</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic disorders</subject><subject>Genetic testing</subject><subject>Genodermatosis</subject><subject>Genomics</subject><subject>Genotype & phenotype</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Ichthyosis</subject><subject>Ichthyosis - genetics</subject><subject>Kidneys</subject><subject>Medical colleges</subject><subject>Medicine</subject><subject>Metabolic Diseases</subject><subject>Mice</subject><subject>Mice, Knockout</subject><subject>Molecular Medicine</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Original Investigation</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Research centers</subject><subject>Serine Endopeptidases - genetics</subject><subject>Skin</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9kV9rFDEUxYNY7Fr9Aj5IwBeFTs2_mWQeS9FaKChd-xwymTu7KTOZdW6m2m9vtltbVkRCCNz8zuUcDiFvODvhjOmPyJiSdcGEzLcUupDPyIIrKQoumHxOFkwqVlSa60PyEvGGMV7WonxBDmUelrpUC3L97Wq5NMcUoh_bEFd0M42YHIZ4TAPSYU4uQUtDpBuXAsSE9GdIa-rmNOI4uJ5O4AEx3AINfp3WdyMGfEUOOtcjvH54j8j150_fz74Ul1_PL85OLwuvdJWKTnetd5xraCvhmpI5XvHKgaoaaCSXZePAZ6usNcZDXcmu7RrDhHGy7gSAPCLvd3uz6x8zYLJDQA997yKMM1qhs9iYupYZffcXejPOU8zuMlULrpUR5olauR5siN2YJue3S-2pVrLidVWrTJ38g8qnhSH4MUIX8nxP8GFPkJkEv9LKzYj2Ynm1z4od63MTOEFnN1MY3HRnObPb3u2ud5t7t_e92226tw_p5maA9lHyp-gMyB2A-SuuYHqK_5-1vwGEb7ZP</recordid><startdate>20230401</startdate><enddate>20230401</enddate><creator>Shamseldin, Hanan E.</creator><creator>Derar, Nada</creator><creator>Alzaidan, Hamad</creator><creator>AlHathal, Naif</creator><creator>Alfalah, Abdullah</creator><creator>Abdulwahab, Firdous</creator><creator>Alzaid, Tariq</creator><creator>Alkeraye, Salim</creator><creator>Alobaida, Saud A.</creator><creator>Alkuraya, Fowzan S.</creator><general>Springer Berlin Heidelberg</general><general>Springer</general><general>Springer Nature B.V</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>ISR</scope><scope>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PHGZM</scope><scope>PHGZT</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQGLB</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-4158-341X</orcidid></search><sort><creationdate>20230401</creationdate><title>PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis</title><author>Shamseldin, Hanan E. ; Derar, Nada ; Alzaidan, Hamad ; AlHathal, Naif ; Alfalah, Abdullah ; Abdulwahab, Firdous ; Alzaid, Tariq ; Alkeraye, Salim ; Alobaida, Saud A. ; Alkuraya, Fowzan S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c476t-f7fdca117ed62ab50a1616ae46beb3135baec6710d88ce963fdfb8028a39f2ee3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Animals</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Care and treatment</topic><topic>Chromosome 16</topic><topic>Dermatology</topic><topic>Ethylenediaminetetraacetic acid</topic><topic>Families & family life</topic><topic>Family</topic><topic>Fibroblasts</topic><topic>Gene Function</topic><topic>Gene mapping</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic disorders</topic><topic>Genetic testing</topic><topic>Genodermatosis</topic><topic>Genomics</topic><topic>Genotype & phenotype</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Ichthyosis</topic><topic>Ichthyosis - genetics</topic><topic>Kidneys</topic><topic>Medical colleges</topic><topic>Medicine</topic><topic>Metabolic Diseases</topic><topic>Mice</topic><topic>Mice, Knockout</topic><topic>Molecular Medicine</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Original Investigation</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Research centers</topic><topic>Serine Endopeptidases - genetics</topic><topic>Skin</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shamseldin, Hanan E.</creatorcontrib><creatorcontrib>Derar, Nada</creatorcontrib><creatorcontrib>Alzaidan, Hamad</creatorcontrib><creatorcontrib>AlHathal, Naif</creatorcontrib><creatorcontrib>Alfalah, Abdullah</creatorcontrib><creatorcontrib>Abdulwahab, Firdous</creatorcontrib><creatorcontrib>Alzaid, Tariq</creatorcontrib><creatorcontrib>Alkeraye, Salim</creatorcontrib><creatorcontrib>Alobaida, Saud A.</creatorcontrib><creatorcontrib>Alkuraya, Fowzan S.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</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 (ProQuest)</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</collection><collection>ProQuest Health & Medical Research Collection</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Health & Nursing</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Applied & Life Sciences</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><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shamseldin, Hanan E.</au><au>Derar, Nada</au><au>Alzaidan, Hamad</au><au>AlHathal, Naif</au><au>Alfalah, Abdullah</au><au>Abdulwahab, Firdous</au><au>Alzaid, Tariq</au><au>Alkeraye, Salim</au><au>Alobaida, Saud A.</au><au>Alkuraya, Fowzan S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis</atitle><jtitle>Human genetics</jtitle><stitle>Hum Genet</stitle><addtitle>Hum Genet</addtitle><date>2023-04-01</date><risdate>2023</risdate><volume>142</volume><issue>4</issue><spage>477</spage><epage>482</epage><pages>477-482</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><abstract>Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in
PRSS8
(encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of
Prss8
knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel
PRSS8
-related ichthyosis disorder.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>36715754</pmid><doi>10.1007/s00439-023-02527-3</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0003-4158-341X</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 2023-04, Vol.142 (4), p.477-482 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2771088993 |
| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Animals Biomedical and Life Sciences Biomedicine Care and treatment Chromosome 16 Dermatology Ethylenediaminetetraacetic acid Families & family life Family Fibroblasts Gene Function Gene mapping Genes Genetic aspects Genetic disorders Genetic testing Genodermatosis Genomics Genotype & phenotype Human Genetics Humans Ichthyosis Ichthyosis - genetics Kidneys Medical colleges Medicine Metabolic Diseases Mice Mice, Knockout Molecular Medicine Mutation Mutation, Missense Original Investigation Pedigree Phenotype Phenotypes Research centers Serine Endopeptidases - genetics Skin |
| title | PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-18T21%3A26%3A15IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=PRSS8,%20encoding%20prostasin,%20is%20mutated%20in%20patients%20with%20autosomal%20recessive%20ichthyosis&rft.jtitle=Human%20genetics&rft.au=Shamseldin,%20Hanan%20E.&rft.date=2023-04-01&rft.volume=142&rft.issue=4&rft.spage=477&rft.epage=482&rft.pages=477-482&rft.issn=0340-6717&rft.eissn=1432-1203&rft_id=info:doi/10.1007/s00439-023-02527-3&rft_dat=%3Cgale_proqu%3EA743619694%3C/gale_proqu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2792174828&rft_id=info:pmid/36715754&rft_galeid=A743619694&rfr_iscdi=true |