-transparent.png){kind=logo}
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.
L Abaied, and
M Trabelsi, and
M Chaabouni, and
M Kharrat, and
L Kraoua, and
R M'rad, and
N Tebib, and
F Maazoul, and
H Chaabouni
October 2005,
American journal of medical genetics. Part A,
L Abaied, and
M Trabelsi, and
M Chaabouni, and
M Kharrat, and
L Kraoua, and
R M'rad, and
N Tebib, and
F Maazoul, and
H Chaabouni
May 2018,
Indian journal of pediatrics,
L Abaied, and
M Trabelsi, and
M Chaabouni, and
M Kharrat, and
L Kraoua, and
R M'rad, and
N Tebib, and
F Maazoul, and
H Chaabouni
August 2008,
Journal of child neurology,
L Abaied, and
M Trabelsi, and
M Chaabouni, and
M Kharrat, and
L Kraoua, and
R M'rad, and
N Tebib, and
F Maazoul, and
H Chaabouni
December 2014,
Human mutation,
L Abaied, and
M Trabelsi, and
M Chaabouni, and
M Kharrat, and
L Kraoua, and
R M'rad, and
N Tebib, and
F Maazoul, and
H Chaabouni
June 1998,
American journal of human genetics,
L Abaied, and
M Trabelsi, and
M Chaabouni, and
M Kharrat, and
L Kraoua, and
R M'rad, and
N Tebib, and
F Maazoul, and
H Chaabouni
January 1997,
Nature genetics,
L Abaied, and
M Trabelsi, and
M Chaabouni, and
M Kharrat, and
L Kraoua, and
R M'rad, and
N Tebib, and
F Maazoul, and
H Chaabouni
March 2013,
Journal of child neurology,
L Abaied, and
M Trabelsi, and
M Chaabouni, and
M Kharrat, and
L Kraoua, and
R M'rad, and
N Tebib, and
F Maazoul, and
H Chaabouni
December 2012,
BMC medical genetics,
L Abaied, and
M Trabelsi, and
M Chaabouni, and
M Kharrat, and
L Kraoua, and
R M'rad, and
N Tebib, and
F Maazoul, and
H Chaabouni
June 2022,
Biomedical reports,
L Abaied, and
M Trabelsi, and
M Chaabouni, and
M Kharrat, and
L Kraoua, and
R M'rad, and
N Tebib, and
F Maazoul, and
H Chaabouni
August 2009,
Human genetics,
