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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003662naa a2200493 4500
001oai:lup.lub.lu.se:49e50836-7102-40b6-810a-c2b8b42998fd
003SwePub
008160401s2008 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/11986062 URI
0247 a https://doi.org/10.1136/jmg.2007.0521912 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Osoegawa, K.4 aut
2451 0a Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
264 c 2007-09-24
264 1b BMJ,c 2008
520 a Aim and method: We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH). Results: Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in five of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 non-syndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at 10q26.11-26.13. Analyses of parental DNA demonstrated that the two deletion cases at 22q11.21 and 6q25.1-25.2 were de novo, while the deletion of 10q26.11-26.13 was inherited from the mother, who also has a cleft lip. These deletions appear likely to be causally associated with the phenotypes of the subjects. Estrogen receptor 1 (ESR1) and fibroblast growth factor receptor 2 (FGFR2) genes from the 6q25.1-25.2 and 10q26.11-26.13, respectively, were identified as likely causative genes using a gene prioritisation software. Conclusion: We have shown that array-CGH analysis of DNA samples derived from cleft lip and palate subjects is an efficient and productive method for identifying candidate chromosomal loci and genes, complementing traditional genetic mapping strategies.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Vessere, G. M.4 aut
7001 a Utami, K. H.4 aut
7001 a Mansilla, M. A.4 aut
7001 a Johnson, M. K.4 aut
7001 a Riley, B. M.4 aut
7001 a L'Heureux, J.4 aut
7001 a Pfundt, R.4 aut
7001 a Staaf, Johanu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-jst
7001 a van der Vliet, W. A.4 aut
7001 a Lidral, A. C.4 aut
7001 a Schoenmakers, E. F. P. M.4 aut
7001 a Borg, A.4 aut
7001 a Schutte, B. C.4 aut
7001 a Lammer, E. J.4 aut
7001 a Murray, J. C.4 aut
7001 a De Jong, P. J.4 aut
7102 a Bröstcancer-genetikb Sektion I4 org
7730 t Journal of Medical Geneticsd : BMJg 45:2, s. 81-86q 45:2<81-86x 0022-2593x 1468-6244
8564 u http://dx.doi.org/10.1136/jmg.2007.052191y FULLTEXT
8564 u https://europepmc.org/articles/pmc3732463?pdf=render
8564 8u https://lup.lub.lu.se/record/1198606
8564 8u https://doi.org/10.1136/jmg.2007.052191

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