| Autor: |
Calcia, Alessandro, Gai, Giorgia, Di Gregorio, Eleonora, Talarico, Flavia, Naretto, Valeria G., Migone, Nicola, Pepe, Ernesto, Grosso, Enrico, Brusco, Alfredo |
| Zdroj: |
American Journal of Medical Genetics. Part A; Oct2013, Vol. 161A Issue 10, p2656-2662, 7p |
| Abstrakt: |
We report on a newborn boy with a bilateral cleft of the primary palate, duplicated triphalangeal thumbs, and a patent foramen ovale. During childhood he had moderate developmental delay. Brain MRI at 4 years was normal. The concurrence of non-syndromic clefts of the lip/palate (CL/P) and duplicated thumbs with triphalangeal component has, to our knowledge, not been reported so far. In our case, array-CGH analysis documented two de novo deletions (∼1.2 Mb and ∼400 Kb) of the long arm of chromosome 4, containing four genes: platelet-derived growth factor C ( PDGFC), glycine receptor beta subunit ( GLRB), glutamate receptor ionotropic AMPA2 ( GRIA2), and F-box protein 8 gene ( FBXO8). PDGFC codes for a mesenchymal cell growth factor already known to be associated with clefts of the lip. Pdgfc−/− mice have skeletal anomalies, and facial schisis resembling human cleft/lip palate. GRIA2 codes for a ligand-activated cation channel that mediates the fast component of postsynaptic excitatory currents in neurons, and may be linked to cognitive dysfunction. FBXO8, a gene of unknown function, is a member of the F-box gene family, among which FBXW4, within the minimal duplicated region associated with human split-hand/foot malformation type 3 (SHFM type 3). The presence of overlapping deletions in patients who do not share the same phenotype of our case suggests incomplete penetrance, and a possible effect of modifier genetic factors. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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