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.
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Authors thank the family members for their consent, support and cooperation throughout the period of this study.
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[Koufaris C., Alexandrou A., Papaevripidou I., Alexandrou I., Christophidou-Anastasiadou V. and Sismani C. 2016 Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight. J. Genet. 95, xxx–xxx]
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KOUFARIS, C., ALEXANDROU, A., PAPAEVRIPIDOU, I. et al. Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight. J Genet 95, 621–624 (2016). https://doi.org/10.1007/s12041-016-0666-6
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DOI: https://doi.org/10.1007/s12041-016-0666-6