Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

Cristina Camprubí, Miriam Guitart, Elisabeth Gabau, Maria Dolors Coll, Sergi Villatoro, Silvestre Oltra, Monica Roselló, Irene Ferrer, Sandra Monfort, Carmen Orellana, Francisco Martínez

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    16 Citations (Scopus)

    Abstract

    Angelman syndrome (AS) is a genetic disorder caused by a deficiency of UBE3A imprinted gene expression from the maternal chromosome 15. In 10% of AS cases the genetic cause is a mutation affecting the maternal copy of the UBE3A gene. In two large Spanish series of clinically stringently selected and non-stringently selected patients, we have identified 11 pathological mutations - eight of them novel mutations - and 14 sequence changes considered polymorphic variants. Remarkably, single nucleotide substitutions are more likely to be inherited, while multiple nucleotide deletions or insertions are less frequently inherited, thus indicating that single nucleotide substitutions are more likely to originate from the paternal germline. Additionally, there seems to be a different distribution of nucleotide changes and multiple nucleotide deletions or insertions along the UBE3A gene sequence. © 2009 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)343-348
    JournalAmerican Journal of Medical Genetics, Part A
    Volume149
    Issue number3
    DOIs
    Publication statusPublished - 1 Jan 2009

    Keywords

    • Angelman syndrome
    • Parental origin
    • Phenotype-genotype correlation
    • UBE3A mutations

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    Camprubí, C., Guitart, M., Gabau, E., Coll, M. D., Villatoro, S., Oltra, S., Roselló, M., Ferrer, I., Monfort, S., Orellana, C., & Martínez, F. (2009). Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. American Journal of Medical Genetics, Part A, 149(3), 343-348. https://doi.org/10.1002/ajmg.a.32659