A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
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Citações na Scopus
11
Tipo de produção
article
Data de publicação
2013
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER SCIENCE BV
Autores
IZZO, Giselle
FREITAS, Erika L.
KREPISCHI, Ana Cristina V.
PEARSON, Peter L.
VASQUES, Luciana R.
PASSOS-BUENO, Maria Rita S.
ROSENBERG, Carla
Citação
EUROPEAN JOURNAL OF MEDICAL GENETICS, v.56, n.4, p.222-225, 2013
Resumo
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.
Palavras-chave
Microduplication, aCGH, TERT, CLPTM1L, Cleft lip and palate
Referências
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