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Comment
. 2023 Feb 9;21(2):e3001993.
doi: 10.1371/journal.pbio.3001993. eCollection 2023 Feb.

Gain-of-function mutations in Trim71 linked to congenital hydrocephalus

Yingying Chen  1 , Xianfa Yang  1 , Naihe Jing  1   2
Affiliations
Comment

Gain-of-function mutations in Trim71 linked to congenital hydrocephalus

Yingying Chen et al. PLoS Biol. .

Abstract

The genetic basis of congenital hydrocephalus is only partially understood. A new study in PLOS Biology reports a potential gain-of-function pathological mechanism of congenital hydrocephalus in mouse embryonic stem cells that involves Wnt-β-catenin signaling pathway regulation.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Potential pathological mechanisms of congenital hydrocephalus associated with Trim71 mutations.
Mutations discovered in Trim71 (R595H and R783H) are located in the NHL domain. Mutant forms of Trim71 ectopically bind to distinct repertoires of target mRNAs. The ectopic binding to Ctnnb1 transcripts repressed translation and production of β-catenin. Dysregulation of Wnt–β-catenin signaling may affect stem cell neural differentiation, which could potentially cause congenital hydrocephalus. CC, coiled coil; RF, ring finger; WT, wild-type.
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