Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

Valentino Romano, Valentino Romano, Giuseppa Ruggeri, Mirella Vinci, Francesco Calì, Salvatore Romano, Maurizio Sturnio, Alda Ragalmuto, Valeria Chiavetta, Marco Fichera, Maurizio Elia, Giuseppe Calabrese, Pietro Schinocca

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Abstract

Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However, some of suspected cases of AS are still scored negativeto all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-deleted allele. In this study, we have used forthe first time multiplex ligation-dependent probe amplification (MLPA) and comparative multiplex dosage analysis (CMDA) to search for large deletions affecting the UBE3A gene. Using this approach, we identified anovel causative deletion involving exon 8 in an affected sibling. Based on our results, we propose the use of MLPA as a fast, accurate and inexpensive test to detectlarge deletions in the UBE3A gene in a small but significant percentage of AS patients.
Lingua originaleEnglish
pagine (da-a)842-848
Numero di pagine7
RivistaExperimental and Molecular Medicine
Volume42
Stato di pubblicazionePublished - 2010

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All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Clinical Biochemistry

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Romano, V., Romano, V., Ruggeri, G., Vinci, M., Calì, F., Romano, S., Sturnio, M., Ragalmuto, A., Chiavetta, V., Fichera, M., Elia, M., Calabrese, G., & Schinocca, P. (2010). Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome. Experimental and Molecular Medicine, 42, 842-848.