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Article

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

Human genetics - 1 Mar 2018

Leduc Magalie S, Mcguire Marianne, Madan-Khetarpal Suneeta, Ortiz Damara, Hayflick Susan, Keller Kory, Eng Christine M, Yang Yaping, Bi Weimin

Abstract excerpt

PRR12 encodes a proline-rich protein nuclear factor suspected to be involved in neural development. Its nuclear expression in fetal brains and in the vision system supports its role in brain and eye development more specifically. However, its function and potential role in human disease has not been determined. Recently, a de novo t(10;19) (q22.3;q13.33) translocation disrupting the PRR12 gene was detected in a...

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Source

Identifiers

PMID: 29556724
DOI: 10.1007/s00439-018-1877-0

Genes

PRR12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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