title: Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.
abstract: Prader-Willi syndrome is a rare syndrome characterized by hypotonia, developmental delay and excessive appetite. This syndrome is caused by the loss of function of paternally-expressed genes located in an imprinting centre in 15q11-q13. Here, we report the case of a patient who was referred to us with Prader-Willi syndrome-like symptoms including obesity and developmental delay. Examination of this patient revealed that he was a carrier of a paternally inherited deletion that affected the U1B and U1B* upstream exons of the SNURF-SNRNP gene within the 15q11-q13 imprinted region. Mutations localized within this genomic region have not been previously reported in Prader-Willi syndrome patients. It is possible that disruption of upstream exons of SNURF-SNRNP could contribute to Prader-Willi phenotype by disrupting brain-specific alternative transcripts, although, case reports from further patients with a comparable phenotype are required.
authors.affiliation: Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus.csismani@cing.ac.cy.
authors.forename: Costas
authors.initials: C
authors.lastname: Koufaris
authors.forename: Angelos
authors.initials: A
authors.lastname: Alexandrou
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papaevripidou
authors.forename: Ioanna
authors.initials: I
authors.lastname: Alexandrou
authors.forename: Violetta
authors.initials: V
authors.lastname: Christophidou-Anastasiadou
authors.forename: Carolina
authors.initials: C
authors.lastname: Sismani
mesh_terms: D001483:Base Sequence; D002648:Child; D002884:Chromosomes, Human, Pair 15; D005091:Exons; D056426:Genetic Loci; D018392:Genomic Imprinting; D006579:Heterozygote; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000172:deficiency / Q000235:genetics*; D000072740:Paternal Inheritance; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion; D055517:snRNP Core Proteins / Q000172:deficiency / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; C445239:SNURF protein, human; D055517:snRNP Core Proteins