scholarly journals A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family

2020 ◽  
Vol 24 (14) ◽  
pp. 7743-7750
Author(s):  
Jiewen Fu ◽  
Shiyi Shen ◽  
Jingliang Cheng ◽  
Hongbin Lv ◽  
Junjiang Fu
Keyword(s):  
Usher Syndrome ◽  
Uniparental Disomy ◽  
Chinese Family ◽  
Syndrome Type ◽  
Maternal Uniparental Disomy ◽  
Usher Syndrome Type

A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family

2017 ◽  
Vol 99 ◽  
pp. 40-43 ◽  
Author(s):  
Xiaoguang He ◽  
Qi Peng ◽  
Siping Li ◽  
Pengyuan Zhu ◽  
Chunqiu Wu ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Usher Syndrome Type

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

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) region and PDZ-binding motif domain, 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.

Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV

2017 ◽  
Vol 102 ◽  
pp. 114-118 ◽  
Author(s):  
Xueling Wang ◽  
Xiao-Jiang Lin ◽  
Xiangrong Tang ◽  
Yong-Chuan Chai ◽  
De-Hong Yu ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Type Iv ◽  
Usher Syndrome Type

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

Abstract 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.

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

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) region and PDZ-binding motif domain, 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.

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

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.Conclusions: 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.

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

Abstract Background: Usher syndrome is a king of phenotypic and genetic heterogeneous disease. 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 10-year 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). Typical clinical presentation of Usher syndrome on fundus was found including a wax yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) showed the loss of ellipsoid zone and the reduction in paracaval vessel density of both eyes. Genetic analysis identified a novel homozygote of c.8483_8486del (p.Ser2828*) in USH2A. The mutation of premature translation termination causes the deletion of 19 fibronectin type 3 domains(FN3), transmembrane region (TM) and PDZ-binding motif domain, which plays an important role in protein binding. Combining the clinical manifestation and genetic result, the patient was diagnosed with Usher syndrome type 2.Conclusions: We found a novel mutation of c.8483_8486del in USH2A gene through TES techniques. The result broaden the spectrum of mutations in Usher syndrome type 2 and suggest that the combination of clinical information and TES molecular diagnosis could help USH patients obtain a better diagnosis.

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

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.Conclusions: 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.

Sign in / Sign up

Export Citation Format

Share Document