SNRNP200

Disease Category: autosomal dominant

Patient Population:

Active Clinical Trials: None

Check clinicaltrials.gov for updates

Treatment Options: None known

Strategies to Preserve Eye Health: None

Institution(s) Conducting Research:

A FACE OF RP

Lance

Brooklyn, NY

BRIEF DESCRIPTION

SNRNP200 retinitis pigmentosa (RP) is a type of autosomal dominant retinitis pigmentosa (adRP) caused by mutations in the SNRNP200 gene. SNRNP200 is a gene that encodes a protein called hBrr2, which is a component of the U4/U6-U5 small nuclear ribonucleoprotein (snRNP) complex. This complex is essential for pre-mRNA splicing, a process that removes introns and connects exons together.

At this time, there is no treatment for RP, but medications can help treat complications. A medical professional can manage the condition to improve symptoms. There is support available for people living with RP and their families.

This is for informational purposes only. For medical advice or diagnosis, consult a professional.

IN THE NEWS

Jul 28, 2021

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond

Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15–20% of autosomal dominant RP cases.

Jan 21, 2021

SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

The SNRNP200 gene plays a key role in the maturation of pre-mRNA splicing with the indication for the etiology of retinitis pigmentosa (RP).

Mar 22, 2020

Approaches to Characterize novel pathogenic missense Variants in PRPF31

RP, classified as a rare disease, is the most common cause of inherited blindness worldwide, affecting 1:3500, but extremely heterogeneous.

Jul 1, 2019

Retinitis pigmentosa caused by variants in SNRNP200

SNRNP200 is a gene recently identified as a cause of autosomal dominant retinitis pigmentosa (RP).

Apr 6, 2017

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Study shows a retinal dystrophy-related phenotype spectrum and its genetic etiology; highlights the complexity of spliceosomal gene network.

Nov 25, 2016

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa

Zilin Zhong , Min Yan , Wan Sun , Zehua Wu , Liyun Han , Zheng Zhou , Fang Zheng , Jianjun Chen | Scientific Reports | 6 | 37840 | 25...

Jul 30, 2011

Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa

RP mutations have also been identified in a group of housekeeping genes that are involved in pre-mRNA splicing and represent . . .