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Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.
Manoubi, Wiem; Mahdouani, Marwa; Hmida, Dorra; Kdissa, Ameni; Rouissi, Aida; Turki, Ilhem; Gueddiche, Neji; Soyah, Najla; Saad, Ali; Bouwkamp, Christian; Elgersma, Ype; Mougou-Zerelli, Soumaya; Gribaa, Moez.
Afiliación
  • Manoubi W; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse 4000, Tunisia.
  • Mahdouani M; Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir 3000, Tunisia. wiem.manoubi@yahoo.fr.
  • Hmida D; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse 4000, Tunisia.
  • Kdissa A; Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir 3000, Tunisia.
  • Rouissi A; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse 4000, Tunisia.
  • Turki I; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse 4000, Tunisia.
  • Gueddiche N; Department of Neuropediatry, La Rabta Hospital, Tunis 2000, Tunisia.
  • Soyah N; Department of Neuropediatry, La Rabta Hospital, Tunis 2000, Tunisia.
  • Saad A; Department of Pediatric, Fattouma Bourguiba Hospital Monastir, Monastir 2003, Tunisia.
  • Bouwkamp C; Department of Pediatric, Farhat Hached University Hospital, Sousse 4000, Tunisia.
  • Elgersma Y; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse 4000, Tunisia.
  • Mougou-Zerelli S; Department of Neuroscience, Erasmus MC, the Netherlands, Rotterdam 3112 td, Netherlands.
  • Gribaa M; Department of Neuroscience, Erasmus MC, the Netherlands, Rotterdam 3112 td, Netherlands.
World J Clin Cases ; 12(3): 503-516, 2024 Jan 26.
Article en En | MEDLINE | ID: mdl-38322471
ABSTRACT

BACKGROUND:

Angelman syndrome (AS) is caused by maternal chromosomal deletions, imprinting defects, paternal uniparental disomy involving chromosome 15 and the ubiquitin-protein ligase UBE3A gene mutations. However the genetic basis remains unclear for several patients.

AIM:

To investigate the involvement of UBE3A gene in AS and identifying new potential genes using exome sequencing.

METHODS:

We established a cohort study in 50 patients referred to Farhat Hached University Hospital between 2006 and 2021, with a strong suspicion of AS and absence of chromosomal aberrations. The UBE3A gene was screened for mutation detection. Two unrelated patients issued from consanguineous families were subjected to exome analysis.

RESULTS:

We describe seven UBE3A variants among them 3 none previously described including intronic variants c.2220+14T>C (intron14), c.2507+43T>A (Exon15) and insertion in Exon7 c.30-47_30-46. The exome sequencing revealed 22 potential genes that could be involved in AS-like syndromes that should be investigated further.

CONCLUSION:

Screening for UBE3A mutations in AS patients has been proven to be useful to confirm the diagnosis. Our exome findings could rise to new potential alternative target genes for genetic counseling.
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Observational_studies / Prognostic_studies Idioma: En Revista: World J Clin Cases Año: 2024 Tipo del documento: Article País de afiliación: Túnez

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Observational_studies / Prognostic_studies Idioma: En Revista: World J Clin Cases Año: 2024 Tipo del documento: Article País de afiliación: Túnez