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The Retinoblastoma Gene01:20

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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A Rhodopsin Transport Assay by High-Content Imaging Analysis
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A novel MERTK mutation causing retinitis pigmentosa.

Hasenin Al-Khersan1, Kaanan P Shah2, Segun C Jung3

  • 1Pritzker School of Medicine, The University of Chicago, Chicago, IL, 60637, USA.

Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
|May 3, 2017
PubMed
Summary

This study identified a novel mutation in the MERTK gene in a patient with retinitis pigmentosa (RP) who lacked a molecular diagnosis. Whole-exome sequencing proved valuable for uncovering the genetic cause of this inherited retinal dystrophy.

Keywords:
DystrophyGeneticsRetinaRetinitis pigmentosa

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Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Retinitis pigmentosa (RP) is a diverse inherited retinal disease with over 80 known causative genes.
  • Current genetic testing platforms may not fully capture the genetic complexity of RP.
  • A significant portion of RP cases remain undiagnosed after initial genetic testing.

Purpose of the Study:

  • To identify the genetic mutation in a patient with RP who did not receive a molecular diagnosis from standard genetic testing.
  • To investigate the genetic heterogeneity of RP in a family with an undiagnosed case.
  • To characterize novel mutations in RP-associated genes.

Main Methods:

  • Whole-exome sequencing was performed on the proband.
  • Candidate gene mutations were selected based on inheritance patterns and predicted pathogenicity.
  • Sanger sequencing was used to determine the genetic phase of mutations in family members, specifically focusing on the MERTK gene.

Main Results:

  • The proband was found to be a compound heterozygote for two mutations in the MERTK gene: a novel nonsense mutation (c.2179C>T) and a known missense variant (c.2530C>T).
  • The affected brother also carried both MERTK mutations.
  • Segregation analysis confirmed the inheritance pattern within the family.

Conclusions:

  • A novel nonsense mutation in the MERTK gene was identified in a family with RP.
  • Exome sequencing is clinically valuable for diagnosing Mendelian diseases, including RP, when conventional genetic tests fail.
  • This finding expands the mutational spectrum of MERTK in RP.