| Literature DB >> 23395979 |
Giselle Izzo1, Érika L Freitas, Ana Cristina V Krepischi, Peter L Pearson, Luciana R Vasques, Maria Rita S Passos-Bueno, Débora R Bertola, Carla Rosenberg.
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.Entities:
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Year: 2013 PMID： 23395979 DOI： 10.1016/j.ejmg.2013.01.002
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708