A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea
Abstract An interstitial deletion of about 12 Mb at 7q33–q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX , both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respe...
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| Veröffentlicht in: | European journal of medical genetics 2008-11, Vol.51 (6), p.631-638 |
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| container_title | European journal of medical genetics |
| container_volume | 51 |
| creator | Rossi, Elena Verri, Anna Pia Patricelli, Maria Grazia Destefani, Valeria Ricca, Ivana Vetro, Annalisa Ciccone, Roberto Giorda, Roberto Toniolo, Daniela Maraschio, Paola Zuffardi, Orsetta |
| description | Abstract An interstitial deletion of about 12 Mb at 7q33–q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX , both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations. |
| doi_str_mv | 10.1016/j.ejmg.2008.06.010 |
| format | Article |
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Two genes, CNTNAP2 and NOBOX , both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations.</description><identifier>ISSN: 1769-7212</identifier><identifier>EISSN: 1878-0849</identifier><identifier>DOI: 10.1016/j.ejmg.2008.06.010</identifier><language>eng</language><publisher>Amsterdam: Elsevier Masson SAS</publisher><subject>Array-CGH ; Autism spectrum disorders ; Biological and medical sciences ; Child clinical studies ; Classical genetics, quantitative genetics, hybrids ; CNTNAP2 ; Developmental disorders ; Female genital diseases ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genetics of eukaryotes. Biological and molecular evolution ; Gynecology. Andrology. Obstetrics ; Human ; Infantile autism ; Medical Education ; Medical genetics ; Medical sciences ; NOBOX ; Non tumoral diseases ; Primary amenorrhea ; Psychology. Psychoanalysis. Psychiatry ; Psychopathology. Psychiatry</subject><ispartof>European journal of medical genetics, 2008-11, Vol.51 (6), p.631-638</ispartof><rights>Elsevier Masson SAS</rights><rights>2008 Elsevier Masson SAS</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1769721208000839$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20947658$$DView record in Pascal Francis$$Hfree_for_read</backlink></links><search><creatorcontrib>Rossi, Elena</creatorcontrib><creatorcontrib>Verri, Anna Pia</creatorcontrib><creatorcontrib>Patricelli, Maria Grazia</creatorcontrib><creatorcontrib>Destefani, Valeria</creatorcontrib><creatorcontrib>Ricca, Ivana</creatorcontrib><creatorcontrib>Vetro, Annalisa</creatorcontrib><creatorcontrib>Ciccone, Roberto</creatorcontrib><creatorcontrib>Giorda, Roberto</creatorcontrib><creatorcontrib>Toniolo, Daniela</creatorcontrib><creatorcontrib>Maraschio, Paola</creatorcontrib><creatorcontrib>Zuffardi, Orsetta</creatorcontrib><title>A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea</title><title>European journal of medical genetics</title><description>Abstract An interstitial deletion of about 12 Mb at 7q33–q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX , both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations.</description><subject>Array-CGH</subject><subject>Autism spectrum disorders</subject><subject>Biological and medical sciences</subject><subject>Child clinical studies</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>CNTNAP2</subject><subject>Developmental disorders</subject><subject>Female genital diseases</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>General aspects. Genetic counseling</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Human</subject><subject>Infantile autism</subject><subject>Medical Education</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>NOBOX</subject><subject>Non tumoral diseases</subject><subject>Primary amenorrhea</subject><subject>Psychology. Psychoanalysis. Psychiatry</subject><subject>Psychopathology. 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Psychology</topic><topic>General aspects. Genetic counseling</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Human</topic><topic>Infantile autism</topic><topic>Medical Education</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>NOBOX</topic><topic>Non tumoral diseases</topic><topic>Primary amenorrhea</topic><topic>Psychology. Psychoanalysis. Psychiatry</topic><topic>Psychopathology. Psychiatry</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rossi, Elena</creatorcontrib><creatorcontrib>Verri, Anna Pia</creatorcontrib><creatorcontrib>Patricelli, Maria Grazia</creatorcontrib><creatorcontrib>Destefani, Valeria</creatorcontrib><creatorcontrib>Ricca, Ivana</creatorcontrib><creatorcontrib>Vetro, Annalisa</creatorcontrib><creatorcontrib>Ciccone, Roberto</creatorcontrib><creatorcontrib>Giorda, Roberto</creatorcontrib><creatorcontrib>Toniolo, Daniela</creatorcontrib><creatorcontrib>Maraschio, Paola</creatorcontrib><creatorcontrib>Zuffardi, Orsetta</creatorcontrib><collection>Pascal-Francis</collection><jtitle>European journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rossi, Elena</au><au>Verri, Anna Pia</au><au>Patricelli, Maria Grazia</au><au>Destefani, Valeria</au><au>Ricca, Ivana</au><au>Vetro, Annalisa</au><au>Ciccone, Roberto</au><au>Giorda, Roberto</au><au>Toniolo, Daniela</au><au>Maraschio, Paola</au><au>Zuffardi, Orsetta</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea</atitle><jtitle>European journal of medical genetics</jtitle><date>2008-11-01</date><risdate>2008</risdate><volume>51</volume><issue>6</issue><spage>631</spage><epage>638</epage><pages>631-638</pages><issn>1769-7212</issn><eissn>1878-0849</eissn><abstract>Abstract An interstitial deletion of about 12 Mb at 7q33–q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX , both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations.</abstract><cop>Amsterdam</cop><pub>Elsevier Masson SAS</pub><doi>10.1016/j.ejmg.2008.06.010</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1769-7212 |
| ispartof | European journal of medical genetics, 2008-11, Vol.51 (6), p.631-638 |
| issn | 1769-7212 1878-0849 |
| language | eng |
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| source | Elsevier ScienceDirect Journals Complete |
| subjects | Array-CGH Autism spectrum disorders Biological and medical sciences Child clinical studies Classical genetics, quantitative genetics, hybrids CNTNAP2 Developmental disorders Female genital diseases Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Human Infantile autism Medical Education Medical genetics Medical sciences NOBOX Non tumoral diseases Primary amenorrhea Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry |
| title | A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea |
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