A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

被引：47

作者：

Backx, L. ^{[1
]}

Seuntjens, E. ^{[2
]}

Devriendt, K. ^{[1
]}

Vermeesch, J. ^{[1
]}

Van Esch, H. ^{[1
]}

机构：

[1] Univ Hosp Gasthuisberg, Ctr Human Genet, BE-3000 Louvain, Belgium

[2] Katholieke Univ Leuven, Lab Mol Biol Celgen, Dept Mol & Dev Genet, Ctr Human Genet, Louvain, Belgium

来源：

CYTOGENETIC AND GENOME RESEARCH | 2011年 / 132卷 / 03期

关键词：

ARID1B; Corpus callosum; Fusion transcript; Intellectual disability; MRPP3; Translocation; CHROMATIN-REMODELING COMPLEX; MENTAL-RETARDATION; SWI/SNF COMPLEXES; SUBUNITS; GENE; CHROMOSOMES; PROTEINS; DIVERSE; FEMALE; FAMILY;

D O I：

10.1159/000321577

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We identified a male patient presenting with intellectual disability and agenesis of the corpus callosum, carrying an apparently balanced, reciprocal, de novo translocation t(6;14) (q25.3;q13.2). Breakpoint mapping, using array painting, identified 2 interesting candidate genes, ARID1B and MRPP3, disrupted in the patient. Unexpectedly, the rearrangement produced 3 in-frame reciprocal fusion transcripts that were further characterized. Formation of fusion transcripts is mainly reported in acquired malignancies and is very rarely observed in patients with intellectual disability (ID) and/or multiple congenital malformations (MCA). Additional experimental results suggest that ARID1B, a gene involved in chromatin remodeling, constitutes a good candidate for the central nervous system phenotype present in the patient. Copyright (C) 2010 S. Karger AG, Basel

引用

页码：135 / 143

页数：9

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