Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype
ABSTRACT Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy‐number reduction (N
Gespeichert in:
| Veröffentlicht in: | Human mutation 2015-04, Vol.36 (4), p.443-453 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 453 |
|---|---|
| container_issue | 4 |
| container_start_page | 443 |
| container_title | Human mutation |
| container_volume | 36 |
| creator | Puppo, Francesca Dionnet, Eugenie Gaillard, Marie-Cécile Gaildrat, Pascaline Castro, Christel Vovan, Catherine Bertaux, Karine Bernard, Rafaelle Attarian, Shahram Goto, Kanako Nishino, Ichizo Hayashi, Yukiko Magdinier, Frédérique Krahn, Martin Helmbacher, Françoise Bartoli, Marc Lévy, Nicolas |
| description | ABSTRACT
Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy‐number reduction (N |
| doi_str_mv | 10.1002/humu.22760 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_hal_p</sourceid><recordid>TN_cdi_hal_primary_oai_HAL_hal_01662841v1</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1673381676</sourcerecordid><originalsourceid>FETCH-LOGICAL-c5320-c8be29d2a3ee79add4654d9cfaf628fc7de19c46919ae650f7872590ae1fbe703</originalsourceid><addsrcrecordid>eNqN0c9v0zAUB_AIgdgYXPgDkCUuAynDTvwjPlaDtpM6KFI7jpbrvCje0jizE0b-exy69cABcbGtp4-_ek8vSd4SfEEwzj7Vw364yDLB8bPklGBZpLFMn09vJlMhJD1JXoVwizEuGMtfJicZ44RRLE6T7qqEtreVNbq3rkWuQjfaW932AdkW9TUgep8ztIAW0Hy2IVN1HS1M4sH2NdJoro11wehuaFxsBrxu0Ocx9N519Ziu7B2gdQ2t68cOXicvKt0EePN4nyXb-ZfN5TJdfVtcXc5WqWF5hlNT7CCTZaZzACF1WVLOaClNpSueFZURJRBpKJdEauAMV6IQGZNYA6l2IHB-lnw45Na6UZ23e-1H5bRVy9lKTTVMeEyi5CeJ9vxgO-_uBwi92ttgoGl0C24IinCR50U8-X9QLikjQohI3_9Fb93g2zj0pISgnGIa1ceDMt6F4KE6NkuwmtarpvWqP-uN-N1j5LDbQ3mkT_uMgBzAg21g_EeUWm6vt0-h6eGPDT38Ov7R_k7FuQVTP74uFLv5vphfs41a578B8g69fA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1667746404</pqid></control><display><type>article</type><title>Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype</title><source>Wiley Online Library - AutoHoldings Journals</source><source>MEDLINE</source><creator>Puppo, Francesca ; Dionnet, Eugenie ; Gaillard, Marie-Cécile ; Gaildrat, Pascaline ; Castro, Christel ; Vovan, Catherine ; Bertaux, Karine ; Bernard, Rafaelle ; Attarian, Shahram ; Goto, Kanako ; Nishino, Ichizo ; Hayashi, Yukiko ; Magdinier, Frédérique ; Krahn, Martin ; Helmbacher, Françoise ; Bartoli, Marc ; Lévy, Nicolas</creator><creatorcontrib>Puppo, Francesca ; Dionnet, Eugenie ; Gaillard, Marie-Cécile ; Gaildrat, Pascaline ; Castro, Christel ; Vovan, Catherine ; Bertaux, Karine ; Bernard, Rafaelle ; Attarian, Shahram ; Goto, Kanako ; Nishino, Ichizo ; Hayashi, Yukiko ; Magdinier, Frédérique ; Krahn, Martin ; Helmbacher, Françoise ; Bartoli, Marc ; Lévy, Nicolas</creatorcontrib><description>ABSTRACT
Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy‐number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4‐permissive haplotypes. This main form is indicated as FSHD1. FSHD‐like phenotypes may also appear in the absence of D4Z4 copy‐number reduction. Variants of the SMCHD1 gene have been reported to associate with D4Z4 hypomethylation in DUX4‐compatible haplotypes, thus defining FSHD2. Recently, mice carrying a muscle‐specific knock‐out of the protocadherin gene Fat1 or its constitutive hypomorphic allele were shown to develop muscular and nonmuscular defects mimicking human FSHD. Here, we report FAT1 variants in a group of patients presenting with neuromuscular symptoms reminiscent of FSHD. The patients do not carry D4Z4 copy‐number reduction, 4q hypomethylation, or SMCHD1 variants. However, abnormal splicing of the FAT1 transcript is predicted for all identified variants. To determine their pathogenicity, we elaborated a minigene approach coupled to an antisense oligonucleotide (AON) assay. In vitro, four out of five selected variants induced partial or complete alteration of splicing by creating new splice sites or modifying splicing regulators. AONs confirmed these effects. Altered transcripts may affect FAT1 protein interactions or stability. Altogether, our data suggest that defective FAT1 is associated with an FSHD‐like phenotype.
This work identifies mutations in FAT1 gene, coding for a transmembrane protein expressed on transverse T tubules of muscle fibers. These mutations, that provoke splicing defects of FAT1 transcript, are carried in FSHD‐like patients.</description><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/humu.22760</identifier><identifier>PMID: 25615407</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; Aged ; Alleles ; Alternative Splicing ; Cadherins - genetics ; Cellular Biology ; Child ; Child, Preschool ; Chromosomes, Human, Pair 4 ; DNA Methylation ; Exons ; facioscapulohumeral dystrophy ; FAT1-protocadherin ; Gene Expression ; Genes, Reporter ; Genetic Variation ; Genetics ; Genotype & phenotype ; Human genetics ; Humans ; Infant ; Infant, Newborn ; Life Sciences ; Middle Aged ; Muscular Dystrophy, Facioscapulohumeral - diagnosis ; Muscular Dystrophy, Facioscapulohumeral - genetics ; Mutation ; Neurological disorders ; neuromuscular pathology ; Phenotype ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA ; Young Adult</subject><ispartof>Human mutation, 2015-04, Vol.36 (4), p.443-453</ispartof><rights>2015 WILEY PERIODICALS, INC.</rights><rights>Copyright © 2015 Wiley Periodicals, Inc.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5320-c8be29d2a3ee79add4654d9cfaf628fc7de19c46919ae650f7872590ae1fbe703</citedby><cites>FETCH-LOGICAL-c5320-c8be29d2a3ee79add4654d9cfaf628fc7de19c46919ae650f7872590ae1fbe703</cites><orcidid>0000-0002-1020-802X ; 0000-0001-5171-6365 ; 0000-0002-0159-9559 ; 0000-0003-3339-9858 ; 0000-0002-7211-4694 ; 0000-0001-6822-1246 ; 0000-0002-9823-0810</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhumu.22760$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhumu.22760$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,776,780,881,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25615407$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://amu.hal.science/hal-01662841$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Puppo, Francesca</creatorcontrib><creatorcontrib>Dionnet, Eugenie</creatorcontrib><creatorcontrib>Gaillard, Marie-Cécile</creatorcontrib><creatorcontrib>Gaildrat, Pascaline</creatorcontrib><creatorcontrib>Castro, Christel</creatorcontrib><creatorcontrib>Vovan, Catherine</creatorcontrib><creatorcontrib>Bertaux, Karine</creatorcontrib><creatorcontrib>Bernard, Rafaelle</creatorcontrib><creatorcontrib>Attarian, Shahram</creatorcontrib><creatorcontrib>Goto, Kanako</creatorcontrib><creatorcontrib>Nishino, Ichizo</creatorcontrib><creatorcontrib>Hayashi, Yukiko</creatorcontrib><creatorcontrib>Magdinier, Frédérique</creatorcontrib><creatorcontrib>Krahn, Martin</creatorcontrib><creatorcontrib>Helmbacher, Françoise</creatorcontrib><creatorcontrib>Bartoli, Marc</creatorcontrib><creatorcontrib>Lévy, Nicolas</creatorcontrib><title>Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype</title><title>Human mutation</title><addtitle>Human Mutation</addtitle><description>ABSTRACT
Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy‐number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4‐permissive haplotypes. This main form is indicated as FSHD1. FSHD‐like phenotypes may also appear in the absence of D4Z4 copy‐number reduction. Variants of the SMCHD1 gene have been reported to associate with D4Z4 hypomethylation in DUX4‐compatible haplotypes, thus defining FSHD2. Recently, mice carrying a muscle‐specific knock‐out of the protocadherin gene Fat1 or its constitutive hypomorphic allele were shown to develop muscular and nonmuscular defects mimicking human FSHD. Here, we report FAT1 variants in a group of patients presenting with neuromuscular symptoms reminiscent of FSHD. The patients do not carry D4Z4 copy‐number reduction, 4q hypomethylation, or SMCHD1 variants. However, abnormal splicing of the FAT1 transcript is predicted for all identified variants. To determine their pathogenicity, we elaborated a minigene approach coupled to an antisense oligonucleotide (AON) assay. In vitro, four out of five selected variants induced partial or complete alteration of splicing by creating new splice sites or modifying splicing regulators. AONs confirmed these effects. Altered transcripts may affect FAT1 protein interactions or stability. Altogether, our data suggest that defective FAT1 is associated with an FSHD‐like phenotype.
This work identifies mutations in FAT1 gene, coding for a transmembrane protein expressed on transverse T tubules of muscle fibers. These mutations, that provoke splicing defects of FAT1 transcript, are carried in FSHD‐like patients.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Alleles</subject><subject>Alternative Splicing</subject><subject>Cadherins - genetics</subject><subject>Cellular Biology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, Pair 4</subject><subject>DNA Methylation</subject><subject>Exons</subject><subject>facioscapulohumeral dystrophy</subject><subject>FAT1-protocadherin</subject><subject>Gene Expression</subject><subject>Genes, Reporter</subject><subject>Genetic Variation</subject><subject>Genetics</subject><subject>Genotype & phenotype</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Life Sciences</subject><subject>Middle Aged</subject><subject>Muscular Dystrophy, Facioscapulohumeral - diagnosis</subject><subject>Muscular Dystrophy, Facioscapulohumeral - genetics</subject><subject>Mutation</subject><subject>Neurological disorders</subject><subject>neuromuscular pathology</subject><subject>Phenotype</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Sequence Analysis, DNA</subject><subject>Young Adult</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0c9v0zAUB_AIgdgYXPgDkCUuAynDTvwjPlaDtpM6KFI7jpbrvCje0jizE0b-exy69cABcbGtp4-_ek8vSd4SfEEwzj7Vw364yDLB8bPklGBZpLFMn09vJlMhJD1JXoVwizEuGMtfJicZ44RRLE6T7qqEtreVNbq3rkWuQjfaW932AdkW9TUgep8ztIAW0Hy2IVN1HS1M4sH2NdJoro11wehuaFxsBrxu0Ocx9N519Ziu7B2gdQ2t68cOXicvKt0EePN4nyXb-ZfN5TJdfVtcXc5WqWF5hlNT7CCTZaZzACF1WVLOaClNpSueFZURJRBpKJdEauAMV6IQGZNYA6l2IHB-lnw45Na6UZ23e-1H5bRVy9lKTTVMeEyi5CeJ9vxgO-_uBwi92ttgoGl0C24IinCR50U8-X9QLikjQohI3_9Fb93g2zj0pISgnGIa1ceDMt6F4KE6NkuwmtarpvWqP-uN-N1j5LDbQ3mkT_uMgBzAg21g_EeUWm6vt0-h6eGPDT38Ov7R_k7FuQVTP74uFLv5vphfs41a578B8g69fA</recordid><startdate>201504</startdate><enddate>201504</enddate><creator>Puppo, Francesca</creator><creator>Dionnet, Eugenie</creator><creator>Gaillard, Marie-Cécile</creator><creator>Gaildrat, Pascaline</creator><creator>Castro, Christel</creator><creator>Vovan, Catherine</creator><creator>Bertaux, Karine</creator><creator>Bernard, Rafaelle</creator><creator>Attarian, Shahram</creator><creator>Goto, Kanako</creator><creator>Nishino, Ichizo</creator><creator>Hayashi, Yukiko</creator><creator>Magdinier, Frédérique</creator><creator>Krahn, Martin</creator><creator>Helmbacher, Françoise</creator><creator>Bartoli, Marc</creator><creator>Lévy, Nicolas</creator><general>Blackwell Publishing Ltd</general><general>Hindawi Limited</general><general>Wiley</general><scope>BSCLL</scope><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><scope>1XC</scope><scope>VOOES</scope><orcidid>https://orcid.org/0000-0002-1020-802X</orcidid><orcidid>https://orcid.org/0000-0001-5171-6365</orcidid><orcidid>https://orcid.org/0000-0002-0159-9559</orcidid><orcidid>https://orcid.org/0000-0003-3339-9858</orcidid><orcidid>https://orcid.org/0000-0002-7211-4694</orcidid><orcidid>https://orcid.org/0000-0001-6822-1246</orcidid><orcidid>https://orcid.org/0000-0002-9823-0810</orcidid></search><sort><creationdate>201504</creationdate><title>Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype</title><author>Puppo, Francesca ; Dionnet, Eugenie ; Gaillard, Marie-Cécile ; Gaildrat, Pascaline ; Castro, Christel ; Vovan, Catherine ; Bertaux, Karine ; Bernard, Rafaelle ; Attarian, Shahram ; Goto, Kanako ; Nishino, Ichizo ; Hayashi, Yukiko ; Magdinier, Frédérique ; Krahn, Martin ; Helmbacher, Françoise ; Bartoli, Marc ; Lévy, Nicolas</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5320-c8be29d2a3ee79add4654d9cfaf628fc7de19c46919ae650f7872590ae1fbe703</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Alleles</topic><topic>Alternative Splicing</topic><topic>Cadherins - genetics</topic><topic>Cellular Biology</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, Pair 4</topic><topic>DNA Methylation</topic><topic>Exons</topic><topic>facioscapulohumeral dystrophy</topic><topic>FAT1-protocadherin</topic><topic>Gene Expression</topic><topic>Genes, Reporter</topic><topic>Genetic Variation</topic><topic>Genetics</topic><topic>Genotype & phenotype</topic><topic>Human genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Life Sciences</topic><topic>Middle Aged</topic><topic>Muscular Dystrophy, Facioscapulohumeral - diagnosis</topic><topic>Muscular Dystrophy, Facioscapulohumeral - genetics</topic><topic>Mutation</topic><topic>Neurological disorders</topic><topic>neuromuscular pathology</topic><topic>Phenotype</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Sequence Analysis, DNA</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Puppo, Francesca</creatorcontrib><creatorcontrib>Dionnet, Eugenie</creatorcontrib><creatorcontrib>Gaillard, Marie-Cécile</creatorcontrib><creatorcontrib>Gaildrat, Pascaline</creatorcontrib><creatorcontrib>Castro, Christel</creatorcontrib><creatorcontrib>Vovan, Catherine</creatorcontrib><creatorcontrib>Bertaux, Karine</creatorcontrib><creatorcontrib>Bernard, Rafaelle</creatorcontrib><creatorcontrib>Attarian, Shahram</creatorcontrib><creatorcontrib>Goto, Kanako</creatorcontrib><creatorcontrib>Nishino, Ichizo</creatorcontrib><creatorcontrib>Hayashi, Yukiko</creatorcontrib><creatorcontrib>Magdinier, Frédérique</creatorcontrib><creatorcontrib>Krahn, Martin</creatorcontrib><creatorcontrib>Helmbacher, Françoise</creatorcontrib><creatorcontrib>Bartoli, Marc</creatorcontrib><creatorcontrib>Lévy, Nicolas</creatorcontrib><collection>Istex</collection><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><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Puppo, Francesca</au><au>Dionnet, Eugenie</au><au>Gaillard, Marie-Cécile</au><au>Gaildrat, Pascaline</au><au>Castro, Christel</au><au>Vovan, Catherine</au><au>Bertaux, Karine</au><au>Bernard, Rafaelle</au><au>Attarian, Shahram</au><au>Goto, Kanako</au><au>Nishino, Ichizo</au><au>Hayashi, Yukiko</au><au>Magdinier, Frédérique</au><au>Krahn, Martin</au><au>Helmbacher, Françoise</au><au>Bartoli, Marc</au><au>Lévy, Nicolas</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype</atitle><jtitle>Human mutation</jtitle><addtitle>Human Mutation</addtitle><date>2015-04</date><risdate>2015</risdate><volume>36</volume><issue>4</issue><spage>443</spage><epage>453</epage><pages>443-453</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><abstract>ABSTRACT
Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy‐number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4‐permissive haplotypes. This main form is indicated as FSHD1. FSHD‐like phenotypes may also appear in the absence of D4Z4 copy‐number reduction. Variants of the SMCHD1 gene have been reported to associate with D4Z4 hypomethylation in DUX4‐compatible haplotypes, thus defining FSHD2. Recently, mice carrying a muscle‐specific knock‐out of the protocadherin gene Fat1 or its constitutive hypomorphic allele were shown to develop muscular and nonmuscular defects mimicking human FSHD. Here, we report FAT1 variants in a group of patients presenting with neuromuscular symptoms reminiscent of FSHD. The patients do not carry D4Z4 copy‐number reduction, 4q hypomethylation, or SMCHD1 variants. However, abnormal splicing of the FAT1 transcript is predicted for all identified variants. To determine their pathogenicity, we elaborated a minigene approach coupled to an antisense oligonucleotide (AON) assay. In vitro, four out of five selected variants induced partial or complete alteration of splicing by creating new splice sites or modifying splicing regulators. AONs confirmed these effects. Altered transcripts may affect FAT1 protein interactions or stability. Altogether, our data suggest that defective FAT1 is associated with an FSHD‐like phenotype.
This work identifies mutations in FAT1 gene, coding for a transmembrane protein expressed on transverse T tubules of muscle fibers. These mutations, that provoke splicing defects of FAT1 transcript, are carried in FSHD‐like patients.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>25615407</pmid><doi>10.1002/humu.22760</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0002-1020-802X</orcidid><orcidid>https://orcid.org/0000-0001-5171-6365</orcidid><orcidid>https://orcid.org/0000-0002-0159-9559</orcidid><orcidid>https://orcid.org/0000-0003-3339-9858</orcidid><orcidid>https://orcid.org/0000-0002-7211-4694</orcidid><orcidid>https://orcid.org/0000-0001-6822-1246</orcidid><orcidid>https://orcid.org/0000-0002-9823-0810</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1059-7794 |
| ispartof | Human mutation, 2015-04, Vol.36 (4), p.443-453 |
| issn | 1059-7794 1098-1004 |
| language | eng |
| recordid | cdi_hal_primary_oai_HAL_hal_01662841v1 |
| source | Wiley Online Library - AutoHoldings Journals; MEDLINE |
| subjects | Adolescent Adult Aged Alleles Alternative Splicing Cadherins - genetics Cellular Biology Child Child, Preschool Chromosomes, Human, Pair 4 DNA Methylation Exons facioscapulohumeral dystrophy FAT1-protocadherin Gene Expression Genes, Reporter Genetic Variation Genetics Genotype & phenotype Human genetics Humans Infant Infant, Newborn Life Sciences Middle Aged Muscular Dystrophy, Facioscapulohumeral - diagnosis Muscular Dystrophy, Facioscapulohumeral - genetics Mutation Neurological disorders neuromuscular pathology Phenotype Polymorphism, Single Nucleotide Sequence Analysis, DNA Young Adult |
| title | Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-07T04%3A16%3A46IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_hal_p&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Identification%20of%20Variants%20in%20the%204q35%20Gene%20FAT1%20in%20Patients%20with%20a%20Facioscapulohumeral%20Dystrophy-Like%20Phenotype&rft.jtitle=Human%20mutation&rft.au=Puppo,%20Francesca&rft.date=2015-04&rft.volume=36&rft.issue=4&rft.spage=443&rft.epage=453&rft.pages=443-453&rft.issn=1059-7794&rft.eissn=1098-1004&rft_id=info:doi/10.1002/humu.22760&rft_dat=%3Cproquest_hal_p%3E1673381676%3C/proquest_hal_p%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1667746404&rft_id=info:pmid/25615407&rfr_iscdi=true |