ArticleHuman mutation2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 49 citations in OpenAlex.
- Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.JCI insight · 2026Article
- HERV activation segregates ME/CFS from fibromyalgia while defining a novel nosologic entity.eLife · 2025Article
- Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.Molecular syndromology · 2024Article
- An old model with new insights: endogenous retroviruses drive the evolvement toward ASD susceptibility and hijack transcription machinery during development.Molecular psychiatry · 2023Article
- Transposable element-mediated rearrangements are prevalent in human genomes.Nature communications · 2022Article
- Retrotransposon-induced mosaicism in the neural genome.Open biology · 2018Review
- Gene Deletion in Barley Mediated by LTR-retrotransposon BARE.Scientific reports · 2017Article
- Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Journal of pediatric genetics · 2017Review
- Friends-Enemies: Endogenous Retroviruses Are Major Transcriptional Regulators of Human DNA.Frontiers in chemistry · 2017Review
- Mechanisms underlying structural variant formation in genomic disorders.Nature reviews. Genetics · 2016Review
- Molecular functions of human endogenous retroviruses in health and disease.Cellular and molecular life sciences : CMLS · 2015Review
- Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Human molecular genetics · 2015Article
- Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Genome research · 2015Article
- Genome architecture and its roles in human copy number variation.Genomics & informatics · 2014Review
- Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.American journal of human genetics · 2014Article
- Refining analyses of copy number variation identifies specific genes associated with developmental delay.Nature genetics · 2014Article
- Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.BMC biology · 2014Article
- Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.BMC medical genetics · 2014Article
- Mutations in ZBTB20 cause Primrose syndrome.Nature genetics · 2014Article
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Authors and funding
28 authors at 14 institutions in 4 countries.
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Abstract
We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4-Mb, de novo deletions of 3q13.2-q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and motor delays; they variably express mild to moderate cognitive delays (8/9), abnormal behavior (7/9), and autism spectrum disorders (3/9). Common facial features include downslanting palpebral fissures with epicanthal folds, a slightly bulbous nose, and relative macrocephaly. Twenty-eight genes map to the deleted region, including four strong candidate genes, DRD3, ZBTB20, GAP43, and BOC, with important roles in neural and/or muscular development. Analysis of the breakpoint regions based on array data revealed directly oriented human endogenous retrovirus (HERV-H) elements of ~5 kb in size and of >95% DNA sequence identity flanking the deletion. Subsequent DNA sequencing revealed different deletion breakpoints and suggested nonallelic homologous recombination (NAHR) between HERV-H elements as a mechanism of deletion formation, analogous to HERV-I-flanked and NAHR-mediated AZFa deletions. We propose that similar HERV elements may also mediate other recurrent deletion and duplication events on a genome-wide scale. Observation of rare recurrent chromosomal events such as these deletions helps to further the understanding of mechanisms behind naturally occurring variation in the human genome and its contribution to genetic disease.
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