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Article

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.

Neurogenetics - 1 Oct 2015

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

Abstract excerpt

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....

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Identifiers

PMID: 26163108
DOI: 10.1007/s10048-015-0452-2

Genes

PRR12
ZMIZ1
NRCAM
SMARCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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