Phenotypic variability of atypical 22q11.2 deletions not including TBX1
Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial ab...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2012-10, Vol.158A (10), p.2412-2420 |
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| creator | Verhagen, Judith M.A. Diderich, Karin E.M. Oudesluijs, Grétel Mancini, Grazia M.S. Eggink, Alex J. Verkleij-Hagoort, Anna C. Groenenberg, Irene A.L. Willems, Patrick J. du Plessis, Frederik A. de Man, Stella A. Srebniak, Malgorzata I. van Opstal, Diane Hulsman, Lorette O.M. van Zutven, Laura J.C.M. Wessels, Marja W. |
| description | Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities. We report on eight patients with atypical deletions of chromosome 22q11.2. These deletions comprise the distal part of the common 22q11.2 deleted region but do not encompass the TBX1 gene. Ten similar patients with overlapping distal 22q11.2 deletions have been reported previously. The clinical features of these patients are described and compared to those found in the classic 22q11.2 deletion syndrome. We discuss the possible roles of a position effect or haploinsufficiency of distally located genes (e.g., CRKL) in the molecular pathogenesis of the 22q11.2 deletion syndrome. © 2012 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/ajmg.a.35517 |
| format | Article |
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The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities. We report on eight patients with atypical deletions of chromosome 22q11.2. These deletions comprise the distal part of the common 22q11.2 deleted region but do not encompass the TBX1 gene. Ten similar patients with overlapping distal 22q11.2 deletions have been reported previously. The clinical features of these patients are described and compared to those found in the classic 22q11.2 deletion syndrome. We discuss the possible roles of a position effect or haploinsufficiency of distally located genes (e.g., CRKL) in the molecular pathogenesis of the 22q11.2 deletion syndrome. © 2012 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.35517</identifier><identifier>PMID: 22893440</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>22q11.2 deletion ; Adolescent ; Adult ; Biological and medical sciences ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 22 - genetics ; copy number variant ; Craniofacial Abnormalities - genetics ; Craniofacial Abnormalities - pathology ; DiGeorge Syndrome - genetics ; DiGeorge Syndrome - pathology ; Female ; Humans ; Infant, Newborn ; Male ; Medical genetics ; Medical sciences ; microarray ; Phenotype ; Pregnancy ; T-Box Domain Proteins - genetics ; TBX1</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities. We report on eight patients with atypical deletions of chromosome 22q11.2. These deletions comprise the distal part of the common 22q11.2 deleted region but do not encompass the TBX1 gene. Ten similar patients with overlapping distal 22q11.2 deletions have been reported previously. The clinical features of these patients are described and compared to those found in the classic 22q11.2 deletion syndrome. We discuss the possible roles of a position effect or haploinsufficiency of distally located genes (e.g., CRKL) in the molecular pathogenesis of the 22q11.2 deletion syndrome. © 2012 Wiley Periodicals, Inc.</description><subject>22q11.2 deletion</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 22 - genetics</subject><subject>copy number variant</subject><subject>Craniofacial Abnormalities - genetics</subject><subject>Craniofacial Abnormalities - pathology</subject><subject>DiGeorge Syndrome - genetics</subject><subject>DiGeorge Syndrome - pathology</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>microarray</subject><subject>Phenotype</subject><subject>Pregnancy</subject><subject>T-Box Domain Proteins - genetics</subject><subject>TBX1</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtvEzEUhS0EakvpjnU1EkJiwQS_PbMsgYZHWxAqanfWjedO6zCZSe0ZIP8ep0mD1EW7smV959zrcwh5yeiIUcrfwWx-NYKRUIqZJ2SPKcVzWQjxdHvnapc8j3FGqaDK6B2yy3lRCinpHpl8v8a265cL77LfEDxMfeP7ZdbVGdy-QpNxfsPYiGcVNtj7ro1ZUmS-dc1Q-fYqO39_yV6QZzU0EQ825z75efzxfPwpP_k2-Tw-Osmd1NLkqDgtteNSGKU1LxXW6OoKhaqkSuuiFLymUE45JBQoUqOFcGBKLJzAQuyTN2vfRehuBoy9nfvosGmgxW6IlsmSa86VNo-jVJecaq1Wrq_uobNuCG36SDLUBaUm7Z2ot2vKhS7GgLVdBD-HsExWdtWFXXVhwd52kfDDjekwnWO1he_CT8DrDQAx5VwHaJ2P_zktilIynTix5v74BpcPDrVHX04nd-PztcrHHv9uVRB-2RSOUfbibGKPTy_oj_HXD_ZM_APFLq4B</recordid><startdate>201210</startdate><enddate>201210</enddate><creator>Verhagen, Judith M.A.</creator><creator>Diderich, Karin E.M.</creator><creator>Oudesluijs, Grétel</creator><creator>Mancini, Grazia M.S.</creator><creator>Eggink, Alex J.</creator><creator>Verkleij-Hagoort, Anna C.</creator><creator>Groenenberg, Irene A.L.</creator><creator>Willems, Patrick J.</creator><creator>du Plessis, Frederik A.</creator><creator>de Man, Stella A.</creator><creator>Srebniak, Malgorzata I.</creator><creator>van Opstal, Diane</creator><creator>Hulsman, Lorette O.M.</creator><creator>van Zutven, Laura J.C.M.</creator><creator>Wessels, Marja W.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>IQODW</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></search><sort><creationdate>201210</creationdate><title>Phenotypic variability of atypical 22q11.2 deletions not including TBX1</title><author>Verhagen, Judith M.A. ; 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Genet</addtitle><date>2012-10</date><risdate>2012</risdate><volume>158A</volume><issue>10</issue><spage>2412</spage><epage>2420</epage><pages>2412-2420</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities. We report on eight patients with atypical deletions of chromosome 22q11.2. These deletions comprise the distal part of the common 22q11.2 deleted region but do not encompass the TBX1 gene. Ten similar patients with overlapping distal 22q11.2 deletions have been reported previously. The clinical features of these patients are described and compared to those found in the classic 22q11.2 deletion syndrome. We discuss the possible roles of a position effect or haploinsufficiency of distally located genes (e.g., CRKL) in the molecular pathogenesis of the 22q11.2 deletion syndrome. © 2012 Wiley Periodicals, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>22893440</pmid><doi>10.1002/ajmg.a.35517</doi><tpages>9</tpages></addata></record> |
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| subjects | 22q11.2 deletion Adolescent Adult Biological and medical sciences Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 22 - genetics copy number variant Craniofacial Abnormalities - genetics Craniofacial Abnormalities - pathology DiGeorge Syndrome - genetics DiGeorge Syndrome - pathology Female Humans Infant, Newborn Male Medical genetics Medical sciences microarray Phenotype Pregnancy T-Box Domain Proteins - genetics TBX1 |
| title | Phenotypic variability of atypical 22q11.2 deletions not including TBX1 |
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