↓ Skip to main content

A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations

Overview of attention for article published in neurogenetics, July 2015
Altmetric Badge

About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (55th percentile)

Mentioned by

twitter
4 X users

Citations

dimensions_citation
22 Dimensions

Readers on

mendeley
42 Mendeley
Title
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations
Published in
neurogenetics, July 2015
DOI 10.1007/s10048-015-0452-2
Pubmed ID
Authors

Carlos Córdova-Fletes, Ma. Guadalupe Domínguez, Ilse Delint-Ramirez, Herminia G. Martínez-Rodríguez, Ana María Rivas-Estilla, Patricio Barros-Núñez, Rocío Ortiz-López, Vivian Alejandra Neira

Abstract

We report a girl with intellectual disability (ID), neuropsychiatric alterations, and a de novo balanced t(10;19)(q22.3;q13.33) translocation. After chromosome sorting, fine mapping of breakpoints by array painting disclosed disruptions of the zinc finger, MIZ-type containing 1 (ZMIZ1) (on chr10) and proline-rich 12 (PRR12) (on chr19) genes. cDNA analyses revealed that the translocation resulted in gene fusions. The resulting hybrid transcripts predict mRNA decay or, if translated, formation of truncated proteins, both due to frameshifts that introduced premature stop codons. Though other molecular mechanisms may be operating, these results suggest that haploinsufficiency of one or both genes accounts for the patient's phenotype. ZMIZ1 is highly expressed in the brain, and its protein product appears to interact with neuron-specific chromatin remodeling complex (nBAF) and activator protein 1 (AP-1) complexes which play a role regulating the activity of genes essential for normal synapse and dendrite growth/behavior. Strikingly, the patient's phenotype overlaps with phenotypes caused by mutations in SMARCA4 (BRG1), an nBAF subunit presumably interacting with ZMIZ1 in brain cells as suggested by our results of coimmunoprecipitation in the mouse brain. PRR12 is also expressed in the brain, and its protein product possesses domains and residues thought to be related in formation of large protein complexes and chromatin remodeling. Our observation from E15 mouse brain cells that a Prr12 isoform was confined to nucleus suggests a role as a transcription nuclear cofactor likely involved in neuronal development. Moreover, a pilot transcriptome analysis from t(10;19) lymphoblastoid cell line suggests dysregulation of genes linked to neurodevelopment processes/neuronal communication (e.g., NRCAM) most likely induced by altered PRR12. This case represents the first constitutional balanced translocation disrupting and fusing both genes and provides clues for the potential function and effects of these in the central nervous system.

X Demographics

X Demographics

The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 42 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 9 21%
Student > Bachelor 6 14%
Researcher 3 7%
Student > Master 3 7%
Professor > Associate Professor 2 5%
Other 6 14%
Unknown 13 31%
Readers by discipline Count As %
Medicine and Dentistry 7 17%
Agricultural and Biological Sciences 6 14%
Biochemistry, Genetics and Molecular Biology 5 12%
Immunology and Microbiology 2 5%
Nursing and Health Professions 1 2%
Other 3 7%
Unknown 18 43%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 February 2021.
All research outputs
#12,870,083
of 22,817,213 outputs
Outputs from neurogenetics
#229
of 376 outputs
Outputs of similar age
#115,294
of 262,931 outputs
Outputs of similar age from neurogenetics
#3
of 4 outputs
Altmetric has tracked 22,817,213 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 376 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 38th percentile – i.e., 38% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 262,931 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 55% of its contemporaries.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one.