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Challenges of Phenotype-Genotype Correlations in Rare Diseases

Challenges of Phenotype-Genotype Correlations in Rare Diseases Letters COMMENT & RESPONSE are often used interchangeably but may actually reflect dif- ferent phenotypes. These challenges illustrate the need for bet- Challenges of Phenotype-Genotype Correlations ter quantitative phenotype data in CLN3 disease. We com- in Rare Diseases mend Smirnov et al for providing such quantitative data about To the Editor We were interested to read the recent article by ophthalmological involvement in CLN3 disease. Smirnov et al. This excellent article described ophthalmo- logic phenotypes in CLN3 disease. It also raised important ques- Margaux C. Masten, BA tions about prior reports of genotype-phenotype associa- Erika F. Augustine, MD, MS tions in CLN3 disease. Jonathan W. Mink, MD, PhD The authors nicely illustrate the complexity of genotype- phenotype associations in CLN3 disease (Figure 3 ). How- Author Affiliations: University of Rochester, Rochester, New York (Masten, Augustine, Mink); Kennedy Krieger Institute, Baltimore, Maryland (Augustine). ever, some of the information included from the literature did Corresponding Author: Margaux C. Masten, BA, University of Rochester, not match our understanding of those same publications. 601 Elmwood Ave, Rochester, NY 14642 (margaux_masten@urmc.rochester.edu). The authors list 4 genotypes associated with severe CLN3 Published Online: October 28, 2021. doi:10.1001/jamaophthalmol.2021.4372 disease. We have concerns with the classification of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Challenges of Phenotype-Genotype Correlations in Rare Diseases

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Publisher
American Medical Association
Copyright
Copyright 2021 American Medical Association. All Rights Reserved.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2021.4372
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Abstract

Letters COMMENT & RESPONSE are often used interchangeably but may actually reflect dif- ferent phenotypes. These challenges illustrate the need for bet- Challenges of Phenotype-Genotype Correlations ter quantitative phenotype data in CLN3 disease. We com- in Rare Diseases mend Smirnov et al for providing such quantitative data about To the Editor We were interested to read the recent article by ophthalmological involvement in CLN3 disease. Smirnov et al. This excellent article described ophthalmo- logic phenotypes in CLN3 disease. It also raised important ques- Margaux C. Masten, BA tions about prior reports of genotype-phenotype associa- Erika F. Augustine, MD, MS tions in CLN3 disease. Jonathan W. Mink, MD, PhD The authors nicely illustrate the complexity of genotype- phenotype associations in CLN3 disease (Figure 3 ). How- Author Affiliations: University of Rochester, Rochester, New York (Masten, Augustine, Mink); Kennedy Krieger Institute, Baltimore, Maryland (Augustine). ever, some of the information included from the literature did Corresponding Author: Margaux C. Masten, BA, University of Rochester, not match our understanding of those same publications. 601 Elmwood Ave, Rochester, NY 14642 (margaux_masten@urmc.rochester.edu). The authors list 4 genotypes associated with severe CLN3 Published Online: October 28, 2021. doi:10.1001/jamaophthalmol.2021.4372 disease. We have concerns with the classification of

Journal

JAMA Ophthalmology – American Medical Association

Published: Dec 28, 2021

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