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Case report
Xiaorong Li
Corresponding Author
ORCiD: https://orcid.org/0000-0003-0641-2797
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Abstract Background: Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features. Case presentation: A 23-year-old man complained of a 10-year duration of nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis (targeted exome sequencing, TES). A typical clinical presentation of Usher syndrome of the fundus was found, including a waxy yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) showed loss of the ellipsoid zone and a reduction in paracaval vessel density in both eyes. Genetic analysis identified a novel homozygous c.8483_8486del (p.Ser2828*) mutation in USH2A. The mutation resulted in premature termination of translation and caused the deletion of 19 fibronectin type 3 domains (FN3), transmembrane (TM) regions and PDZ-binding motif domains, which play an important role in protein binding. After combining the clinical manifestations and genetic results, the patient was diagnosed with Usher syndrome type 2. Conclusion: We found a novel c.8483_8486del mutation in the USH2A gene through TES techniques. The results broaden the spectrum of mutations in Usher syndrome type 2 and suggest that a combination of clinical information and molecular diagnosis via TES could help Usher syndrome patients obtain a better diagnosis.
Keywords
Usher syndrome, targeted exome sequencing, mutation, case report
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CURRENT STATUS: Published
View the published article at BMC Ophthalmology.
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Editorial decision: Accept
On 28 Oct, 2020
Editor assigned
On 26 Oct, 2020
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On 25 Oct, 2020
Editor invited
On 25 Oct, 2020
Version 5
Posted 23 Oct, 2020
No comments provided
Editorial decision: Minor revision
On 21 Oct, 2020
Editor assigned
On 19 Oct, 2020
Submission checks complete
On 18 Oct, 2020
Editor invited
On 18 Oct, 2020
No comments provided
Submission checks complete
On 01 Oct, 2020
Editorial decision: Minor revision
On 30 Sep, 2020
No comments provided
Editorial decision: Minor revision
On 21 Sep, 2020
Review #1 received
Received 14 Sep, 2020
Reviewers invited
Invitations sent on 09 Sep, 2020
Reviewer #1 agreed
On 09 Sep, 2020
Editor assigned
On 07 Sep, 2020
Submission checks complete
On 06 Sep, 2020
Editor invited
On 06 Sep, 2020
No comments provided
Editorial decision: Major revision
On 05 Aug, 2020
Editor assigned
On 22 Jul, 2020
Submission checks complete
On 21 Jul, 2020
Editor invited
On 21 Jul, 2020
No comments provided
Editorial decision: Major revision
On 18 Jun, 2020
Review #2 received
Received 30 May, 2020
Reviewer #2 agreed
On 22 May, 2020
Review #1 received
Received 16 May, 2020
Reviewers invited
Invitations sent on 04 May, 2020
Reviewer #1 agreed
On 04 May, 2020
Editor assigned
On 16 Mar, 2020
Submission checks complete
On 05 Mar, 2020
Editor invited
On 04 Mar, 2020
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Subject Areas
Ophthalmology
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A new preprint design is coming!
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See the published version of this preprint at BMC Ophthalmology.
This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Case report
Xiaorong Li
Corresponding Author
ORCiD: https://orcid.org/0000-0003-0641-2797
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
View the published article at BMC Ophthalmology.
No community comments so far
Editorial decision: Accept
On 28 Oct, 2020
Editor assigned
On 26 Oct, 2020
Submission checks complete
On 25 Oct, 2020
Editor invited
On 25 Oct, 2020
Version 5
Posted 23 Oct, 2020
No comments provided
Editorial decision: Minor revision
On 21 Oct, 2020
Editor assigned
On 19 Oct, 2020
Submission checks complete
On 18 Oct, 2020
Editor invited
On 18 Oct, 2020
No comments provided
Submission checks complete
On 01 Oct, 2020
Editorial decision: Minor revision
On 30 Sep, 2020
No comments provided
Editorial decision: Minor revision
On 21 Sep, 2020
Review #1 received
Received 14 Sep, 2020
Reviewers invited
Invitations sent on 09 Sep, 2020
Reviewer #1 agreed
On 09 Sep, 2020
Editor assigned
On 07 Sep, 2020
Submission checks complete
On 06 Sep, 2020
Editor invited
On 06 Sep, 2020
No comments provided
Editorial decision: Major revision
On 05 Aug, 2020
Editor assigned
On 22 Jul, 2020
Submission checks complete
On 21 Jul, 2020
Editor invited
On 21 Jul, 2020
No comments provided
Editorial decision: Major revision
On 18 Jun, 2020
Review #2 received
Received 30 May, 2020
Reviewer #2 agreed
On 22 May, 2020
Review #1 received
Received 16 May, 2020
Reviewers invited
Invitations sent on 04 May, 2020
Reviewer #1 agreed
On 04 May, 2020
Editor assigned
On 16 Mar, 2020
Submission checks complete
On 05 Mar, 2020
Editor invited
On 04 Mar, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Ophthalmology
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at BMC Ophthalmology.
Abstract Background: Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features. Case presentation: A 23-year-old man complained of a 10-year duration of nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis (targeted exome sequencing, TES). A typical clinical presentation of Usher syndrome of the fundus was found, including a waxy yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) showed loss of the ellipsoid zone and a reduction in paracaval vessel density in both eyes. Genetic analysis identified a novel homozygous c.8483_8486del (p.Ser2828*) mutation in USH2A. The mutation resulted in premature termination of translation and caused the deletion of 19 fibronectin type 3 domains (FN3), transmembrane (TM) regions and PDZ-binding motif domains, which play an important role in protein binding. After combining the clinical manifestations and genetic results, the patient was diagnosed with Usher syndrome type 2. Conclusion: We found a novel c.8483_8486del mutation in the USH2A gene through TES techniques. The results broaden the spectrum of mutations in Usher syndrome type 2 and suggest that a combination of clinical information and molecular diagnosis via TES could help Usher syndrome patients obtain a better diagnosis.
Figure 1
Figure 2
Figure 3
This is a list of supplementary files associated with this preprint. Click to download.
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