Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients

2018 ◽  
Vol 487 ◽  
pp. 264-269
Author(s):  
Yulin Chen ◽  
Guoqiang Li ◽  
Yufei Xu ◽  
Tingting Yu ◽  
Yi Zhang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Novel Mutation ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Targeted Exome Sequencing

scholarly journals Targeted Exome Sequencing Identified a Novel USH2A Mutation in a Chinese Usher Syndrome Family

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

Abstract Background To identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features. Methods A 23-year-old man complain of 10-year nyctalopia and a 3-year decline in visual acuity in both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms of the patient were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis(Targeted exome sequencing, TES). Results Typical clinical presentation of Usher syndrome on fundus features was found, which included a wax 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 the presence of novel homozygote of c.8483_8486del (p.S2828fs) in USH2A, a gene responsible for Usher syndrome type 2 (OMIM:276901). This novel mutation in USH2A led to premature translation termination, resulting in the deletion of 19 fibronectin type 3 domains(FN3), which plays an important role in protein binding. Based on the clinical manifestations 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 for 381 inherited retinal disease (IRD) related genes. The results of this study broaden the spectrum of mutations in Usher syndrome type 2 and suggest that the combination of TES molecular diagnosis and clinical information can help USH patients obtain a better diagnoses.

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family

2017 ◽  
Vol 82 (3) ◽  
pp. 171-176 ◽  
Author(s):  
Anwar Kamal Khan ◽  
Noor Muhammad ◽  
Sher Alam Khan ◽  
Waheed Ullah ◽  
Abdul Nasir ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Hypertrophic Osteoarthropathy ◽  
Pakistani Family ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing

scholarly journals Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy

2012 ◽  
Vol 90 (1) ◽  
pp. 125-132 ◽  
Author(s):  
Zhenlin Zhang ◽  
Weibo Xia ◽  
Jinwei He ◽  
Zeng Zhang ◽  
Yaohua Ke ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy

A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy

Gene ◽  
2013 ◽  
Vol 521 (1) ◽  
pp. 191-194 ◽  
Author(s):  
Zeng Zhang ◽  
Jin-Wei He ◽  
Wen-Zhen Fu ◽  
Chang-Qing Zhang ◽  
Zhen-Lin Zhang
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy

A novel mutation identified in PKHD1 by targeted exome sequencing: Guiding prenatal diagnosis for an ARPKD family

Gene ◽  
2014 ◽  
Vol 551 (1) ◽  
pp. 33-38 ◽  
Author(s):  
Yan Xu ◽  
Bing Xiao ◽  
Wen-Ting Jiang ◽  
Lei Wang ◽  
Hong-quan Gen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Novel Mutation ◽  
Targeted Exome Sequencing

scholarly journals Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Gilyazetdinov Kamil ◽  
Ju Young Yoon ◽  
Sukdong Yoo ◽  
Chong Kun Cheon
Keyword(s):  
Short Stature ◽  
Exome Sequencing ◽  
Developmental Delay ◽  
Large Scale ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Connective Tissue Diseases ◽  
Cleidocranial Dysplasia ◽  
Facial Features ◽  
Targeted Exome Sequencing

Abstract Background Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causing mutations in a cohort of Korean patients with suspected syndromic SS by targeted exome sequencing (TES). Methods Thirty-four patients in South Korea with suspected syndromic disorders based on abnormal growth and dysmorphic facial features, developmental delay, or accompanying anomalies were enrolled in 2018–2020 and evaluated by TES. Results For 17 of 34 patients with suspected syndromic SS, a genetic diagnosis was obtained by TES. The mean SDS values for height, IGF-1, and IGFBP-3 for these 17 patients were − 3.27 ± 1.25, − 0.42 ± 1.15, and 0.36 ± 1.31, respectively. Most patients displayed distinct facial features (16/17) and developmental delay or intellectual disability (12/17). In 17 patients, 19 genetic variants were identified, including 13 novel heterozygous variants, associated with 15 different genetic diseases, including many inherited rare skeletal disorders and connective tissue diseases (e.g., cleidocranial dysplasia, Hajdu–Cheney syndrome, Sheldon–Hall, acromesomelic dysplasia Maroteaux type, and microcephalic osteodysplastic primordial dwarfism type II). After re-classification by clinical reassessment, including family member testing and segregation studies, 42.1% of variants were pathogenic, 42.1% were likely pathogenic variant, and 15.7% were variants of uncertain significance. Ultra-rare diseases accounted for 12 out of 15 genetic diseases (80%). Conclusions A high positive result from genetic testing suggests that TES may be an effective diagnostic approach for patients with syndromic SS, with implications for genetic counseling. These results expand the mutation spectrum for rare genetic diseases related to SS in Korea.

scholarly journals Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yahya Benbouchta ◽  
Imane Cherkaoui Jaouad ◽  
Habiba Tazi ◽  
Hamza Elorch ◽  
Mouna Ouhenach ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Novel Mutation ◽  
Corneal Dystrophy ◽  
Heterozygous Mutation ◽  
Large Variability ◽  
Whole Exome ◽  
Moroccan Family

Abstract Background Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of insoluble deposits at different depths in the cornea. Clinical symptoms revealed bilateral multiple superficial, epithelial, and stromal anterior granular opacities in different stages of severity among three patients of this family. A total of 99 genes are involved in CDs. The aim of this study was to identify pathogenic variants causing atypical corneal dystrophy in a large Moroccan family and to describe the clinical phenotype with severely different stages of evolution. Case presentation In this study, we report a large Moroccan family with CD. Whole-exome sequencing (WES) was performed in the three affected members who shared a phenotype of corneal dystrophy in different stages of severity. Variant validation and familial segregation were performed by Sanger sequencing in affected sisters and mothers and in two unaffected brothers. Whole-exome sequencing showed a novel heterozygous mutation (c.1772C > A; p.Ser591Tyr) in the TGFBI gene. Clinical examinations demonstrated bilaterally multiple superficial, epithelial and stromal anterior granular opacities in different stages of severity among three patients in this family. Conclusions This report describes a novel mutation in the TGFBI gene found in three family members affected by different phenotypic aspects. This mutation is associated with Thiel-Behnke corneal dystrophy; therefore, it could be considered a novel phenotype genotype correlation, which will help in genetic counselling for this family.

Sign in / Sign up

Export Citation Format

Share Document