X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
We report linkage analysis in a new family with nonspecific X‐linked mental retardation, using 27 polymorphic markers covering the entire X‐chromosome. We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with flanking markers DXS573 in Xp11.3 and DXS990 in Xq21...
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| Veröffentlicht in: | American journal of medical genetics 1999-07, Vol.85 (3), p.305-308 |
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| creator | Yntema, Helger G. van den Helm, Bellinda Knoers, Nine V.A.M. Smits, Arie P.T. van Roosmalen, Tanja Smeets, Dominique F.C.M. Mariman, Edwin C.M. van der Burgt, Ineke van Bokhoven, Hans Ropers, Hans-Hilger Kremer, Hannie Hamel, Ben C.J. |
| description | We report linkage analysis in a new family with nonspecific X‐linked mental retardation, using 27 polymorphic markers covering the entire X‐chromosome. We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with flanking markers DXS573 in Xp11.3 and DXS990 in Xq21.33. A maximum LOD score of 3.64 was found at markers ALAS2 (Xp11.22) and DXS453 (Xq12) at θ = 0. Twenty‐five of the 58 reported MRX families are linked to a region that is partially overlapping with the region reported here. Extension of the pedigree showed a number of unaffected distant relatives with haplotypes corresponding to the disease locus. Apparently, a new mutation in a female is causative for the disease in the family reported here. Furthermore, we show the importance of combining clinical, cytogenetic, and molecular studies since one of the family members, expected to be affected by the same genetic defect, has a 48,XXXY karyotype. Am. J. Med. Genet. 85:305–308, 1999 © 1999 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1096-8628(19990730)85:3<305::AID-AJMG22>3.0.CO;2-5 |
| format | Article |
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We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with flanking markers DXS573 in Xp11.3 and DXS990 in Xq21.33. A maximum LOD score of 3.64 was found at markers ALAS2 (Xp11.22) and DXS453 (Xq12) at θ = 0. Twenty‐five of the 58 reported MRX families are linked to a region that is partially overlapping with the region reported here. Extension of the pedigree showed a number of unaffected distant relatives with haplotypes corresponding to the disease locus. Apparently, a new mutation in a female is causative for the disease in the family reported here. Furthermore, we show the importance of combining clinical, cytogenetic, and molecular studies since one of the family members, expected to be affected by the same genetic defect, has a 48,XXXY karyotype. Am. J. Med. Genet. 85:305–308, 1999 © 1999 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/(SICI)1096-8628(19990730)85:3<305::AID-AJMG22>3.0.CO;2-5</identifier><identifier>PMID: 10398247</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Body Weights and Measures ; Centromere - genetics ; Child ; DNA - genetics ; Family Health ; Female ; Genetic Linkage ; Humans ; Intellectual Disability - genetics ; linkage ; Lod Score ; Male ; Microsatellite Repeats ; Middle Aged ; Mutation ; nonspecific X-linked mental retardation ; Pedigree ; Psychiatric Status Rating Scales ; Psychometrics ; X Chromosome - genetics ; X-chromosome ; Xp11.3-q21.33</subject><ispartof>American journal of medical genetics, 1999-07, Vol.85 (3), p.305-308</ispartof><rights>Copyright © 1999 Wiley‐Liss, Inc.</rights><rights>Copyright 1999 Wiley-Liss, Inc.</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c4092-d7645037f30e59d2e19f72dff9747499114b2c1425909b04fabc8873c02979823</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10398247$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yntema, Helger G.</creatorcontrib><creatorcontrib>van den Helm, Bellinda</creatorcontrib><creatorcontrib>Knoers, Nine V.A.M.</creatorcontrib><creatorcontrib>Smits, Arie P.T.</creatorcontrib><creatorcontrib>van Roosmalen, Tanja</creatorcontrib><creatorcontrib>Smeets, Dominique F.C.M.</creatorcontrib><creatorcontrib>Mariman, Edwin C.M.</creatorcontrib><creatorcontrib>van der Burgt, Ineke</creatorcontrib><creatorcontrib>van Bokhoven, Hans</creatorcontrib><creatorcontrib>Ropers, Hans-Hilger</creatorcontrib><creatorcontrib>Kremer, Hannie</creatorcontrib><creatorcontrib>Hamel, Ben C.J.</creatorcontrib><title>X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report linkage analysis in a new family with nonspecific X‐linked mental retardation, using 27 polymorphic markers covering the entire X‐chromosome. We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with flanking markers DXS573 in Xp11.3 and DXS990 in Xq21.33. A maximum LOD score of 3.64 was found at markers ALAS2 (Xp11.22) and DXS453 (Xq12) at θ = 0. Twenty‐five of the 58 reported MRX families are linked to a region that is partially overlapping with the region reported here. Extension of the pedigree showed a number of unaffected distant relatives with haplotypes corresponding to the disease locus. Apparently, a new mutation in a female is causative for the disease in the family reported here. Furthermore, we show the importance of combining clinical, cytogenetic, and molecular studies since one of the family members, expected to be affected by the same genetic defect, has a 48,XXXY karyotype. Am. J. Med. Genet. 85:305–308, 1999 © 1999 Wiley‐Liss, Inc.</description><subject>Adult</subject><subject>Body Weights and Measures</subject><subject>Centromere - genetics</subject><subject>Child</subject><subject>DNA - genetics</subject><subject>Family Health</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>linkage</subject><subject>Lod Score</subject><subject>Male</subject><subject>Microsatellite Repeats</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>nonspecific X-linked mental retardation</subject><subject>Pedigree</subject><subject>Psychiatric Status Rating Scales</subject><subject>Psychometrics</subject><subject>X Chromosome - genetics</subject><subject>X-chromosome</subject><subject>Xp11.3-q21.33</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkV1v0zAUhiMEYt3gLyBfofbC5diO47ggRCmjtNqoxIeodnOUJs5mlo_OSQe954fjkDIhgcSVrfe8fs45foPgFYMxA-DPhh8Xs8WIgY5oHPF4yLTWoASMYjkRLwTIyWS6eEOny_M55y_FGMaz1XNO5b1gcPfofjAAFsZUca2PguOm-QrAvMAfBkcMhI55qAbBjzUtbHVtMlKaqk0K4kybuCxpbV1NyOmtzUyVGpLXjiS-lnoTKXftrzqxlRdze2vopamM68U8KW2xJ8PzD-tIjsiB3takvTJka5ztGK4uu5snXvo3j4IHeVI05vHhPAk-vz39NHtHz1bzxWx6RtMQNKeZikIJQuUCjNQZN0znimd5rlWoQq39dhuespBLDXoDYZ5s0jhWIgWuld9XnARPe-7W1Tc707RY2iY1RZFUpt41GOk4ZhyEN657Y-rqpnEmx62zZeL2yAC7hBC7hLD7bOw-G38nhLFEgT4hRJ8Q9gl5BXC2Qo7So58cZthtSpP9Ae4j8YaL3vDNFmb_V-P_9v1n24Pi4bSH26Y13-_gibvGSAkl8cv7OV7M1Wu5XHbT_gSrm7tX</recordid><startdate>19990730</startdate><enddate>19990730</enddate><creator>Yntema, Helger G.</creator><creator>van den Helm, Bellinda</creator><creator>Knoers, Nine V.A.M.</creator><creator>Smits, Arie P.T.</creator><creator>van Roosmalen, Tanja</creator><creator>Smeets, Dominique F.C.M.</creator><creator>Mariman, Edwin C.M.</creator><creator>van der Burgt, Ineke</creator><creator>van Bokhoven, Hans</creator><creator>Ropers, Hans-Hilger</creator><creator>Kremer, Hannie</creator><creator>Hamel, Ben C.J.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</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>7X8</scope></search><sort><creationdate>19990730</creationdate><title>X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region</title><author>Yntema, Helger G. ; van den Helm, Bellinda ; Knoers, Nine V.A.M. ; Smits, Arie P.T. ; van Roosmalen, Tanja ; Smeets, Dominique F.C.M. ; Mariman, Edwin C.M. ; van der Burgt, Ineke ; van Bokhoven, Hans ; Ropers, Hans-Hilger ; Kremer, Hannie ; Hamel, Ben C.J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4092-d7645037f30e59d2e19f72dff9747499114b2c1425909b04fabc8873c02979823</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adult</topic><topic>Body Weights and Measures</topic><topic>Centromere - genetics</topic><topic>Child</topic><topic>DNA - genetics</topic><topic>Family Health</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Humans</topic><topic>Intellectual Disability - genetics</topic><topic>linkage</topic><topic>Lod Score</topic><topic>Male</topic><topic>Microsatellite Repeats</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>nonspecific X-linked mental retardation</topic><topic>Pedigree</topic><topic>Psychiatric Status Rating Scales</topic><topic>Psychometrics</topic><topic>X Chromosome - genetics</topic><topic>X-chromosome</topic><topic>Xp11.3-q21.33</topic><toplevel>online_resources</toplevel><creatorcontrib>Yntema, Helger G.</creatorcontrib><creatorcontrib>van den Helm, Bellinda</creatorcontrib><creatorcontrib>Knoers, Nine V.A.M.</creatorcontrib><creatorcontrib>Smits, Arie P.T.</creatorcontrib><creatorcontrib>van Roosmalen, Tanja</creatorcontrib><creatorcontrib>Smeets, Dominique F.C.M.</creatorcontrib><creatorcontrib>Mariman, Edwin C.M.</creatorcontrib><creatorcontrib>van der Burgt, Ineke</creatorcontrib><creatorcontrib>van Bokhoven, Hans</creatorcontrib><creatorcontrib>Ropers, Hans-Hilger</creatorcontrib><creatorcontrib>Kremer, Hannie</creatorcontrib><creatorcontrib>Hamel, Ben C.J.</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>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yntema, Helger G.</au><au>van den Helm, Bellinda</au><au>Knoers, Nine V.A.M.</au><au>Smits, Arie P.T.</au><au>van Roosmalen, Tanja</au><au>Smeets, Dominique F.C.M.</au><au>Mariman, Edwin C.M.</au><au>van der Burgt, Ineke</au><au>van Bokhoven, Hans</au><au>Ropers, Hans-Hilger</au><au>Kremer, Hannie</au><au>Hamel, Ben C.J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. 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Furthermore, we show the importance of combining clinical, cytogenetic, and molecular studies since one of the family members, expected to be affected by the same genetic defect, has a 48,XXXY karyotype. Am. J. Med. Genet. 85:305–308, 1999 © 1999 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>10398247</pmid><doi>10.1002/(SICI)1096-8628(19990730)85:3<305::AID-AJMG22>3.0.CO;2-5</doi><tpages>4</tpages></addata></record> |
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| identifier | ISSN: 0148-7299 |
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| subjects | Adult Body Weights and Measures Centromere - genetics Child DNA - genetics Family Health Female Genetic Linkage Humans Intellectual Disability - genetics linkage Lod Score Male Microsatellite Repeats Middle Aged Mutation nonspecific X-linked mental retardation Pedigree Psychiatric Status Rating Scales Psychometrics X Chromosome - genetics X-chromosome Xp11.3-q21.33 |
| title | X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region |
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