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https://observatorio.fm.usp.br/handle/OPI/4468| Title: | A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate |
| Authors: | IZZO, Giselle; FREITAS, Erika L.; KREPISCHI, Ana Cristina V.; PEARSON, Peter L.; VASQUES, Luciana R.; PASSOS-BUENO, Maria Rita S.; BERTOLA, Debora R.; ROSENBERG, Carla |
| Citation: | EUROPEAN JOURNAL OF MEDICAL GENETICS, v.56, n.4, p.222-225, 2013 |
| Abstract: | We report a 10-year-old boy with syndromic cleft lip and palate (CLP) and neuro-psychomotor developmental delay. Oligoarray comparative genomic hybridization (aCGH) detected an approximately 300 kb interstitial microduplication at 5p15.33 encompassing 5 protein-coding genes, including TERT and CLPTM1L, and two microRNA genes. Our findings suggest that the duplicated segment predisposes for cleft lip with or without cleft palate (CL/P), or any of the other phenotypic features presented by the patient. A gene coding a similar protein (CLPMT1) has been implicated in CLP etiology both through linkage studies and by a translocation disrupting the gene, indicating the possible involvement of CLPTM1L with CL/P. This is the first report of a possible connection between CLPTM1L and CLP. |
| Appears in Collections: | Artigos e Materiais de Revistas Científicas - HC/ICr Artigos e Materiais de Revistas Científicas - LIM/36 |
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| art_BERTOLA_A_microduplication_of_5p15_33_reveals_CLPTM1L_as_2013.PDF Restricted Access | publishedVersion (English) | 348.06 kB | Adobe PDF | View/Open Request a copy |
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