title: A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.
abstract: We identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 coding region, and we expect that the resulting UBE3A truncated protein in our patients is non-functional since the mutation implies the catalytic region of the enzyme. The family includes 14 affected patients born from four sisters. This mutation was found in all surviving affected individuals and their mothers pointing out the importance of genetic counseling possibility in Angelman syndrome (AS). All patients had severe mental retardation with epilepsy and microcephaly. Minor clinical expression variation was observed among the investigated patients. The severity of clinical expression is related to the detected molecular variation: deletion of 15 bp and insertion of 7 bp. These results are concordant with the gene expression observed in previously reported individuals with AS and truncated UBE3A protein.
authors.affiliation: Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunis, Tunisia.
authors.forename: L
authors.initials: L
authors.lastname: Abaied
authors.forename: M
authors.initials: M
authors.lastname: Trabelsi
authors.forename: M
authors.initials: M
authors.lastname: Chaabouni
authors.forename: M
authors.initials: M
authors.lastname: Kharrat
authors.forename: L
authors.initials: L
authors.lastname: Kraoua
authors.forename: R
authors.initials: R
authors.lastname: M'rad
authors.forename: N
authors.initials: N
authors.lastname: Tebib
authors.forename: F
authors.initials: F
authors.lastname: Maazoul
authors.forename: H
authors.initials: H
authors.lastname: Chaabouni
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics*; D001483:Base Sequence; D020134:Catalytic Domain; D017931:DNA Primers; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014416:Tunisia; D044767:Ubiquitin-Protein Ligases / Q000235:genetics* / Q000378:metabolism
chemical_list: D017931:DNA Primers; C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases