Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease
Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient. The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, faci...
Gespeichert in:
| Veröffentlicht in: | Molecular cytogenetics 2015-02, Vol.8 (1), p.8-8 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 8 |
|---|---|
| container_issue | 1 |
| container_start_page | 8 |
| container_title | Molecular cytogenetics |
| container_volume | 8 |
| creator | Armanet, Narjes Metay, Corinne Brisset, Sophie Deschenes, Georges Pineau, Dominique Petit, François M Di Rocco, Federico Goossens, Michel Tachdjian, Gérard Labrune, Philippe Tosca, Lucie |
| description | Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient.
The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and renal proximal tubulopathy associated with low-molecular-weight proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia and hyperuricemia. Standard and high resolution karyotypes showed a 46,XY formula. Array-CGH revealed two consecutive cryptic deletions in the region Xp11.22, measuring respectively 148 Kb and 2.6 Mb. The two deletions were inherited from the asymptomatic mother.
Array-CGH allowed us to determine candidate genes in the deleted region. The disruption and partial loss of CLCN5 confirmed the diagnostic of Dent disease for this patient. Moreover, the previously described involvement of SHROOM4 in neuronal development is discussed. |
| doi_str_mv | 10.1186/s13039-015-0107-x |
| format | Article |
| fullrecord | <record><control><sourceid>gale_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4322561</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A541572077</galeid><sourcerecordid>A541572077</sourcerecordid><originalsourceid>FETCH-LOGICAL-b560t-8d451b840b58ac41946d3ed64a08bcd8b829c9ec45edfa69c3048cd833a8b9213</originalsourceid><addsrcrecordid>eNqNUk1r3DAQNaWlSdP-gF6KoJdevJGsD8uXQthtm8I2C_2A3oQsjXdVbGsr2Wny7yvXSchCCkEIiZn3HjPzJsteE7wgRIrTSCimVY4JTxeX-dWT7JiUnOeSCPH03v8oexHjL4wFoZI9z44KLkpcCXGcxZUf6xbQzz0hi6JAFloYnO-R6007Wtdv0bfzr5vNF4Z0b9FyvbzgSMfojdMDWPTHDTsU4RICoH28Njvf-cEHFGDQwep_UhNxBf2ArIugI7zMnjW6jfDq5j3Jfnz88H15nq83nz4vz9Z5zQUecmkZJ7VkuOZSG0YqJiwFK5jGsjZW1rKoTAWGcbCNFpWhmMkUp1TLuioIPcnez7r7se7AmlRC0K3aB9fpcK28duow07ud2vpLxWiRJjQJrGaB2vn_CBxmjO_UbIpKpqjJFHWVZN7d1BH87xHioDoXDbSt7sGPUSWDEqPEBX0ElDNRSV7yBH07Q7e6BeX6xqcSzARXZ5wRXha4LBNq8QAqHQudM76HxqX4AYHMBBN8jAGau3YJVtPWPdjgm_uDvmPcrhn9C5Jm0uk</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1654698575</pqid></control><display><type>article</type><title>Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease</title><source>DOAJ Directory of Open Access Journals</source><source>SpringerNature Journals</source><source>PubMed Central Open Access</source><source>Springer Nature OA Free Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>Free Full-Text Journals in Chemistry</source><creator>Armanet, Narjes ; Metay, Corinne ; Brisset, Sophie ; Deschenes, Georges ; Pineau, Dominique ; Petit, François M ; Di Rocco, Federico ; Goossens, Michel ; Tachdjian, Gérard ; Labrune, Philippe ; Tosca, Lucie</creator><creatorcontrib>Armanet, Narjes ; Metay, Corinne ; Brisset, Sophie ; Deschenes, Georges ; Pineau, Dominique ; Petit, François M ; Di Rocco, Federico ; Goossens, Michel ; Tachdjian, Gérard ; Labrune, Philippe ; Tosca, Lucie</creatorcontrib><description>Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient.
The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and renal proximal tubulopathy associated with low-molecular-weight proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia and hyperuricemia. Standard and high resolution karyotypes showed a 46,XY formula. Array-CGH revealed two consecutive cryptic deletions in the region Xp11.22, measuring respectively 148 Kb and 2.6 Mb. The two deletions were inherited from the asymptomatic mother.
Array-CGH allowed us to determine candidate genes in the deleted region. The disruption and partial loss of CLCN5 confirmed the diagnostic of Dent disease for this patient. Moreover, the previously described involvement of SHROOM4 in neuronal development is discussed.</description><identifier>ISSN: 1755-8166</identifier><identifier>EISSN: 1755-8166</identifier><identifier>DOI: 10.1186/s13039-015-0107-x</identifier><identifier>PMID: 25670966</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Case Report ; Case studies ; Cytogenetics ; Genes ; Genetic aspects</subject><ispartof>Molecular cytogenetics, 2015-02, Vol.8 (1), p.8-8</ispartof><rights>COPYRIGHT 2015 BioMed Central Ltd.</rights><rights>Armanet et al.; licensee BioMed Central. 2015</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b560t-8d451b840b58ac41946d3ed64a08bcd8b829c9ec45edfa69c3048cd833a8b9213</citedby><cites>FETCH-LOGICAL-b560t-8d451b840b58ac41946d3ed64a08bcd8b829c9ec45edfa69c3048cd833a8b9213</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322561/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322561/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25670966$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Armanet, Narjes</creatorcontrib><creatorcontrib>Metay, Corinne</creatorcontrib><creatorcontrib>Brisset, Sophie</creatorcontrib><creatorcontrib>Deschenes, Georges</creatorcontrib><creatorcontrib>Pineau, Dominique</creatorcontrib><creatorcontrib>Petit, François M</creatorcontrib><creatorcontrib>Di Rocco, Federico</creatorcontrib><creatorcontrib>Goossens, Michel</creatorcontrib><creatorcontrib>Tachdjian, Gérard</creatorcontrib><creatorcontrib>Labrune, Philippe</creatorcontrib><creatorcontrib>Tosca, Lucie</creatorcontrib><title>Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease</title><title>Molecular cytogenetics</title><addtitle>Mol Cytogenet</addtitle><description>Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient.
The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and renal proximal tubulopathy associated with low-molecular-weight proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia and hyperuricemia. Standard and high resolution karyotypes showed a 46,XY formula. Array-CGH revealed two consecutive cryptic deletions in the region Xp11.22, measuring respectively 148 Kb and 2.6 Mb. The two deletions were inherited from the asymptomatic mother.
Array-CGH allowed us to determine candidate genes in the deleted region. The disruption and partial loss of CLCN5 confirmed the diagnostic of Dent disease for this patient. Moreover, the previously described involvement of SHROOM4 in neuronal development is discussed.</description><subject>Case Report</subject><subject>Case studies</subject><subject>Cytogenetics</subject><subject>Genes</subject><subject>Genetic aspects</subject><issn>1755-8166</issn><issn>1755-8166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><recordid>eNqNUk1r3DAQNaWlSdP-gF6KoJdevJGsD8uXQthtm8I2C_2A3oQsjXdVbGsr2Wny7yvXSchCCkEIiZn3HjPzJsteE7wgRIrTSCimVY4JTxeX-dWT7JiUnOeSCPH03v8oexHjL4wFoZI9z44KLkpcCXGcxZUf6xbQzz0hi6JAFloYnO-R6007Wtdv0bfzr5vNF4Z0b9FyvbzgSMfojdMDWPTHDTsU4RICoH28Njvf-cEHFGDQwep_UhNxBf2ArIugI7zMnjW6jfDq5j3Jfnz88H15nq83nz4vz9Z5zQUecmkZJ7VkuOZSG0YqJiwFK5jGsjZW1rKoTAWGcbCNFpWhmMkUp1TLuioIPcnez7r7se7AmlRC0K3aB9fpcK28duow07ud2vpLxWiRJjQJrGaB2vn_CBxmjO_UbIpKpqjJFHWVZN7d1BH87xHioDoXDbSt7sGPUSWDEqPEBX0ElDNRSV7yBH07Q7e6BeX6xqcSzARXZ5wRXha4LBNq8QAqHQudM76HxqX4AYHMBBN8jAGau3YJVtPWPdjgm_uDvmPcrhn9C5Jm0uk</recordid><startdate>20150201</startdate><enddate>20150201</enddate><creator>Armanet, Narjes</creator><creator>Metay, Corinne</creator><creator>Brisset, Sophie</creator><creator>Deschenes, Georges</creator><creator>Pineau, Dominique</creator><creator>Petit, François M</creator><creator>Di Rocco, Federico</creator><creator>Goossens, Michel</creator><creator>Tachdjian, Gérard</creator><creator>Labrune, Philippe</creator><creator>Tosca, Lucie</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope></search><sort><creationdate>20150201</creationdate><title>Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease</title><author>Armanet, Narjes ; Metay, Corinne ; Brisset, Sophie ; Deschenes, Georges ; Pineau, Dominique ; Petit, François M ; Di Rocco, Federico ; Goossens, Michel ; Tachdjian, Gérard ; Labrune, Philippe ; Tosca, Lucie</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b560t-8d451b840b58ac41946d3ed64a08bcd8b829c9ec45edfa69c3048cd833a8b9213</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Case Report</topic><topic>Case studies</topic><topic>Cytogenetics</topic><topic>Genes</topic><topic>Genetic aspects</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Armanet, Narjes</creatorcontrib><creatorcontrib>Metay, Corinne</creatorcontrib><creatorcontrib>Brisset, Sophie</creatorcontrib><creatorcontrib>Deschenes, Georges</creatorcontrib><creatorcontrib>Pineau, Dominique</creatorcontrib><creatorcontrib>Petit, François M</creatorcontrib><creatorcontrib>Di Rocco, Federico</creatorcontrib><creatorcontrib>Goossens, Michel</creatorcontrib><creatorcontrib>Tachdjian, Gérard</creatorcontrib><creatorcontrib>Labrune, Philippe</creatorcontrib><creatorcontrib>Tosca, Lucie</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Molecular cytogenetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Armanet, Narjes</au><au>Metay, Corinne</au><au>Brisset, Sophie</au><au>Deschenes, Georges</au><au>Pineau, Dominique</au><au>Petit, François M</au><au>Di Rocco, Federico</au><au>Goossens, Michel</au><au>Tachdjian, Gérard</au><au>Labrune, Philippe</au><au>Tosca, Lucie</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease</atitle><jtitle>Molecular cytogenetics</jtitle><addtitle>Mol Cytogenet</addtitle><date>2015-02-01</date><risdate>2015</risdate><volume>8</volume><issue>1</issue><spage>8</spage><epage>8</epage><pages>8-8</pages><issn>1755-8166</issn><eissn>1755-8166</eissn><abstract>Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient.
The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and renal proximal tubulopathy associated with low-molecular-weight proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia and hyperuricemia. Standard and high resolution karyotypes showed a 46,XY formula. Array-CGH revealed two consecutive cryptic deletions in the region Xp11.22, measuring respectively 148 Kb and 2.6 Mb. The two deletions were inherited from the asymptomatic mother.
Array-CGH allowed us to determine candidate genes in the deleted region. The disruption and partial loss of CLCN5 confirmed the diagnostic of Dent disease for this patient. Moreover, the previously described involvement of SHROOM4 in neuronal development is discussed.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>25670966</pmid><doi>10.1186/s13039-015-0107-x</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1755-8166 |
| ispartof | Molecular cytogenetics, 2015-02, Vol.8 (1), p.8-8 |
| issn | 1755-8166 1755-8166 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4322561 |
| source | DOAJ Directory of Open Access Journals; SpringerNature Journals; PubMed Central Open Access; Springer Nature OA Free Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Case Report Case studies Cytogenetics Genes Genetic aspects |
| title | Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-26T21%3A09%3A40IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Double%20Xp11.22%20deletion%20including%20SHROOM4%20and%20CLCN5%20associated%20with%20severe%20psychomotor%20retardation%20and%20Dent%20disease&rft.jtitle=Molecular%20cytogenetics&rft.au=Armanet,%20Narjes&rft.date=2015-02-01&rft.volume=8&rft.issue=1&rft.spage=8&rft.epage=8&rft.pages=8-8&rft.issn=1755-8166&rft.eissn=1755-8166&rft_id=info:doi/10.1186/s13039-015-0107-x&rft_dat=%3Cgale_pubme%3EA541572077%3C/gale_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1654698575&rft_id=info:pmid/25670966&rft_galeid=A541572077&rfr_iscdi=true |