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Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome

Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in... Letters we missed a heterozygous deletion of exons 4 and 5 (Figure). Be- Missed Heterozygous Deletion in Study cause the c.709C>T mutation was located in the deleted region, of Next-Generation Sequencing for Molecular we could confirm the pseudohomozygosity and conclude that Diagnosis in Patients With Infantile the patient had compound heterozygosity for hemizygous Nystagmus Syndrome c.709C>T and heterozygous deletion of exons 4 and 5. The de- TotheEditor Inourarticle“AccuracyofNext-GenerationSequenc- letionofexons4and5inNMNAT1wasinheritedfromthemother. ing for Molecular Diagnosis in Patients With Infantile Nystagmus This change affects 1 row and 1 footnote in Table 2 of our Syndrome,” we originally reported that patient 8 had a homo- article. A new reference has been added to the References list zygousmutation(c.709C>T)inNMNAT1.Thepatient’sfatherwas and is cited in Table 2. These changes do not affect our conclu- aheterozygouscarrierforthec.709C>Tmutation,butthemother sions.Wehaverequestedcorrectiontothearticletoaddressthese wasnot.Wesuspectedthatthiscouldbefromuniparentaldisomy errors. We confirm there are no other errors in the published ar- or maternal mosaicism. After further analysis using our custom- ticle. Table 2 has been corrected online. ized algorithm to detect copy number variation, we noted that Figure. A Heterozygous Deletion of Exons 4 and 5 Was Detected Using the ExomeDepth and Customized Depth Normalizing Software 1.0 0.5 –0.5 –1.0 NM_001297778 2 3 4 5 NM_001297779 2 3 4 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome

JAMA Ophthalmology , Volume 137 (12) – Dec 26, 2019

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Publisher
American Medical Association
Copyright
Copyright 2019 American Medical Association. All Rights Reserved.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2019.3755
Publisher site
See Article on Publisher Site

Abstract

Letters we missed a heterozygous deletion of exons 4 and 5 (Figure). Be- Missed Heterozygous Deletion in Study cause the c.709C>T mutation was located in the deleted region, of Next-Generation Sequencing for Molecular we could confirm the pseudohomozygosity and conclude that Diagnosis in Patients With Infantile the patient had compound heterozygosity for hemizygous Nystagmus Syndrome c.709C>T and heterozygous deletion of exons 4 and 5. The de- TotheEditor Inourarticle“AccuracyofNext-GenerationSequenc- letionofexons4and5inNMNAT1wasinheritedfromthemother. ing for Molecular Diagnosis in Patients With Infantile Nystagmus This change affects 1 row and 1 footnote in Table 2 of our Syndrome,” we originally reported that patient 8 had a homo- article. A new reference has been added to the References list zygousmutation(c.709C>T)inNMNAT1.Thepatient’sfatherwas and is cited in Table 2. These changes do not affect our conclu- aheterozygouscarrierforthec.709C>Tmutation,butthemother sions.Wehaverequestedcorrectiontothearticletoaddressthese wasnot.Wesuspectedthatthiscouldbefromuniparentaldisomy errors. We confirm there are no other errors in the published ar- or maternal mosaicism. After further analysis using our custom- ticle. Table 2 has been corrected online. ized algorithm to detect copy number variation, we noted that Figure. A Heterozygous Deletion of Exons 4 and 5 Was Detected Using the ExomeDepth and Customized Depth Normalizing Software 1.0 0.5 –0.5 –1.0 NM_001297778 2 3 4 5 NM_001297779 2 3 4

Journal

JAMA OphthalmologyAmerican Medical Association

Published: Dec 26, 2019

References