Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterised by distinctive craniofacial and skeletal abnormalities. TRPS is generally associated with mutations in the TRPS1 gene at 8q23.3 or microdeletions of the 8q23.3-q24.11 region. However, three deletions affecting the same chromosome region and a familial translocation t(8;13) co-segregating with TRPS, which do not encompass or disrupt the TRPS1 gene, have been reported. A deregulated expression of TRPS1 has been hypothesised as cause of the TRPS phenotype of these patients.

Crippa, M., Bestetti, I., Perotti, M., Castronovo, C., Tabano, S., Picinelli, C., et al. (2014). New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene. BMC MEDICAL GENETICS, 15, 52 [10.1186/1471-2350-15-52].

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

PEROTTI, MARIO;GRASSI, GUIDO;PINCELLI, ANGELA IDA
Penultimo
;
2014

Abstract

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterised by distinctive craniofacial and skeletal abnormalities. TRPS is generally associated with mutations in the TRPS1 gene at 8q23.3 or microdeletions of the 8q23.3-q24.11 region. However, three deletions affecting the same chromosome region and a familial translocation t(8;13) co-segregating with TRPS, which do not encompass or disrupt the TRPS1 gene, have been reported. A deregulated expression of TRPS1 has been hypothesised as cause of the TRPS phenotype of these patients.
Articolo in rivista - Articolo scientifico
Scientifica
Base Sequence; Chromosome Breakpoints; Chromosome Mapping; Comparative Genomic Hybridization; Computational Biology; DNA Mutational Analysis; DNA-Binding Proteins; Female; Fingers; Hair Diseases; Hand Deformities; Humans; In Situ Hybridization, Fluorescence; Langer-Giedion Syndrome; Middle Aged; Mutation; Nose; Transcription Factors; Chromosomes, Human, Pair 2; Chromosomes, Human, Pair 8; Phenotype; Translocation, Genetic
English
Crippa, M., Bestetti, I., Perotti, M., Castronovo, C., Tabano, S., Picinelli, C., et al. (2014). New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene. BMC MEDICAL GENETICS, 15, 52 [10.1186/1471-2350-15-52].
Crippa, M; Bestetti, I; Perotti, M; Castronovo, C; Tabano, S; Picinelli, C; Grassi, G; Larizza, L; Pincelli, A; Finelli, P
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/56749
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