Am J Med Genet A. 2010 Jan;152A(1):141-6.

A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.

Abaied L, Trabelsi M, Chaabouni M, Kharrat M, Kraoua L, M'rad R, Tebib N, Maazoul F, Chaabouni H.

Source

Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunis, Tunisia.

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.

PMID:: 20034088; [PubMed - indexed for MEDLINE]

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The spectrum of mutations in UBE3A causing Angelman syndrome. [Hum Mol Genet. 1999]
The spectrum of mutations in UBE3A causing Angelman syndrome.
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, et al. Hum Mol Genet. 1999 Jan; 8(1):129-35.
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Review Molecular epigenetics of Angelman syndrome. [Cell Mol Life Sci. 2007]
Review Molecular epigenetics of Angelman syndrome.
Lalande M, Calciano MA. Cell Mol Life Sci. 2007 Apr; 64(7-8):947-60.

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Cited by 1 PubMed Central article

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome. [Exp Mol Med. 2010]
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.
Cali F, Ragalmuto A, Chiavetta V, Calabrese G, Fichera M, Vinci M, Ruggeri G, Schinocca P, Sturnio M, Romano S, et al. Exp Mol Med. 2010 Dec 31; 42(12):842-8.

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