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泛素蛋白连接酶E3A基因作为天使综合征潜在靶点的遗传学研究。

Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.

作者信息

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

机构信息

Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse 4000, Tunisia.

Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir 3000, Tunisia.

出版信息

World J Clin Cases. 2024 Jan 26;12(3):503-516. doi: 10.12998/wjcc.v12.i3.503.

DOI:10.12998/wjcc.v12.i3.503
PMID:38322471
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10841941/
Abstract

BACKGROUND

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

AIM

To investigate the involvement of 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 gene was screened for mutation detection. Two unrelated patients issued from consanguineous families were subjected to exome analysis.

RESULTS

We describe seven 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 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.

摘要

背景

天使综合征（AS）由母系染色体缺失、印记缺陷、涉及15号染色体的父系单亲二体性以及泛素蛋白连接酶基因突变引起。然而，部分患者的遗传基础仍不清楚。

目的

通过外显子组测序研究[具体基因]在AS中的作用并鉴定新的潜在基因。

方法

我们对2006年至2021年间转诊至法哈特·哈奇德大学医院的50例患者进行了队列研究，这些患者高度怀疑患有AS且无染色体畸变。对[具体基因]进行突变检测筛查。对来自近亲家庭的两名无血缘关系的患者进行外显子组分析。

结果

我们描述了7种[具体基因]变体，其中3种以前未描述过，包括内含子变体c.2220 + 14T>C（内含子14）、c.2507 + 43T>A（外显子15）以及外显子7中的插入：c.30 - 47_30 - 46。外显子组测序揭示了22个可能与AS样综合征有关的潜在基因，应进一步研究。

结论

对AS患者进行[具体基因]突变筛查已被证明有助于确诊。我们的外显子组研究结果可能为遗传咨询带来新的潜在替代靶基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/70da32000b42/WJCC-12-503-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/63345154a2b3/WJCC-12-503-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/9dd9c2bdbee3/WJCC-12-503-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/1edd6623f62d/WJCC-12-503-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/12edc58a3e70/WJCC-12-503-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/780d24109b1f/WJCC-12-503-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/70da32000b42/WJCC-12-503-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/63345154a2b3/WJCC-12-503-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/9dd9c2bdbee3/WJCC-12-503-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/1edd6623f62d/WJCC-12-503-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/12edc58a3e70/WJCC-12-503-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/780d24109b1f/WJCC-12-503-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc34/10841941/70da32000b42/WJCC-12-503-g006.jpg

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