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Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a...
Marques, Bárbara; Ferreira, Cristina; Araújo, Carlos; Vieira, Luis; Martins, Márcia; Pinto, Maximina; Dias, Cristina; David, DezsőTricho-rhino-phalangeal syndrome type I (TRPS I; OMIM 190350) and type II (OMIM 150230) are two forms of the rare autosomal-dominant TRP malformation syndrome localised in 8q23.3–24.1. TRPS I is generally caused by point mutations or deletions of the TRPS1 gene, whereas type II is characterised by the presence of multiple cartilage exostoses (EXT) and deletions comprising the TRPS1 and EXT1 genes. In the presen...
A pathogenic breakpoint at 566.8 kb from the 3′ end of the SATB2 leads to a 2q3...
David, Dezső; Santos, Inês; Marques, Bárbara; Correia, Hildeberto; Teixeira, FilomenaSATB2 is an AT-rich sequence-binding protein that binds to nuclear matrix attachment regions. It plays an important role in transcription regulation and chromatin loop remodelling. Deletions, chromosome translocations, as well as heterozygous nonsense mutations affecting this gene have been reported associated with overlapping conditions involving craniofacial anomalies such as the isolated cleft palate (OMIM 1...
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