Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population

2016 ◽  
Vol 254 (11) ◽  
pp. 2227-2238 ◽  
Author(s):  
Shiyuan Wang ◽  
Qi Zhang ◽  
Xiang Zhang ◽  
Zhaoyang Wang ◽  
Peiquan Zhao
Keyword(s):  
Eastern Coast ◽  
Novel Mutations ◽  
Genetic Characteristics ◽  
Han Population ◽  
Leber Congenital Amaurosis

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics

2012 ◽  
Vol 172 (4) ◽  
pp. 545-550 ◽  
Author(s):  
Jeana Hong ◽  
Jeong Kee Seo ◽  
Jae Sung Ko ◽  
Hae Il Cheong ◽  
Jung-Hwan Choi ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Genetic Characteristics ◽  
Korean Children ◽  
Congenital Chloride Diarrhea

scholarly journals Detection and Analysis of Gene Mutations in Patients with Glanzmann's Thrombasthenia

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 2373-2373
Author(s):  
Boyang Sun ◽  
Donglei Zhang ◽  
Huiyuan Li ◽  
Xueqing Dou ◽  
Renchi Yang
Keyword(s):  
Clinical Laboratory ◽  
Conflicts Of Interest ◽  
Gene Mutations ◽  
Adenosine Diphosphate ◽  
Severe Bleeding ◽  
Missense Mutations ◽  
Novel Mutations ◽  
Genetic Characteristics ◽  
Pathogenic Variants ◽  
Standards And Guidelines

Background: Glanzmann thrombasthenia (GT) is a rare inherited disorder of bleeding, and it is characterized by the impaired or absent platelet aggregation to multiple physiologic agonists such as collagen, adenosine diphosphate (ADP), arachidonic acid(AA), but normal reaction to ristocetin. There is qualitative or quantitative defect in platelet integrin αIIbβ3(GPIIb/IIIa). Pathogenic variants of either αIIb or β3 unit could cause GT. The database of gene mutations is continuously updated on the Internet (http://www.hgmd.org); it totally lists 236 variants of ITGA2B gene and 170 variants of ITGB3 gene. Aim: To characterize the clinical manifestation and molecular basis of GT patients in China, and update the pathogenic variants database. Method: Clinical features are evaluated in 104 patients with GT. New generation sequencing was performed with a custom designed panel for the bleeding and platelet disease involving 76 genes, while ITGA2B and ITGB3 were enrolled. Result: The initial bleeding occurred before 1 age in most patients. Incidence of consanguinity is 12.5%. Symptoms lessened with age in about 30% patients. Female patients suffered more severe bleeding than male patients. Fifty different mutations were detected, among which 15 were novel. Most patients were compound heterozygotes and most mutations detected were missense mutations. Among 15 novel mutations, there were 7 missense mutations, 2 nonsense mutations, 2 splicing mutations, 4 frameshift mutations. Pathogenicity of all novel mutations were evaluated according to the standards and guidelines of ACMG. All variants detected were pathogenic or likely pathogenic. Furthermore, c.1750C>T [p.R584X] and c.2333A>C [p.Q778P] in ITGA2B were detected in 10 and 16 unrelated families, strongly suggesting a founder effect. Conclusion: Our study reports the largest cohort of GT in China, describing the clinical, laboratory and genetic characteristics of 104 patients. We found 15 novel pathogenic mutations in ITGA2B and ITGB3 causing GT. Theses novel findings expand the GT mutation spectrum. Disclosures No relevant conflicts of interest to declare.

scholarly journals Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family

2013 ◽  
Vol 21 (11) ◽  
pp. 1266-1271 ◽  
Author(s):  
Frida Jonsson ◽  
Marie S Burstedt ◽  
Ola Sandgren ◽  
Anna Norberg ◽  
Irina Golovleva
Keyword(s):  
Novel Mutations ◽  
Stargardt Disease ◽  
Leber Congenital Amaurosis ◽  
Swedish Family

scholarly journals Novel Mutations of Mitochondrial DNA Associated with Type 2 Diabetes in Chinese Han Population

2008 ◽  
Vol 215 (4) ◽  
pp. 377-384 ◽  
Author(s):  
Wen-Qiang Liao ◽  
Yan Pang ◽  
Chang-An Yu ◽  
Jian-Yan Wen ◽  
Yi-Guan Zhang ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Mitochondrial Dna ◽  
Chinese Han Population ◽  
Novel Mutations ◽  
Chinese Han ◽  
Han Population

scholarly journals Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

2018 ◽  
Vol 2018 ◽  
pp. 1-9 ◽  
Author(s):  
Li Chen ◽  
Huifang Yan ◽  
Binbin Cao ◽  
Ye Wu ◽  
Qiang Gu ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Direct Sequencing ◽  
Chinese Patients ◽  
Insertion Mutation ◽  
Inherited Disease ◽  
Wild Type ◽  
Novel Mutations ◽  
Genetic Characteristics ◽  
Developmental Problems ◽  
Polymerase Chain

Objective. Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA) that leads to severe physiologic and developmental problems. Our study is aimed at elucidating the clinical and genetic characteristics of Chinese MLD patients. Methods. Clinical data of 21 MLD patients was collected. All coding exons of ARSA and their flanking intronic sequences were amplified by polymerase chain reaction and subjected to direct sequencing. Results. All 21 patients were diagnosed with MLD clinically and genetically, out of which 17 patients were late infantile and 4 were juvenile types. A total of 34 ARSA mutations, including 28 novel mutations (22 missense, 1 splicing, 1 nonsense, 3 small insertions, and 1 small deletion mutation) and 6 known mutations (5 missense and 1 small insertion mutation), were identified. Prenatal diagnosis was performed for four pedigrees. One fetus was a patient, two fetuses were carriers, and two were wild type. Conclusions. The present study discovered 28 novel ARSA mutations and widely expanded the mutation spectrum of ARSA. Four successful prenatal diagnoses provided critical information for MLD families.

scholarly journals Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2: Novel mutations in CYP11B2

2020 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Hande Turan ◽  
Aydilek Dağdeviren Çakır ◽  
Yavuz Özer ◽  
Gürkan Tarçın ◽  
Bahar Özcabi ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Genetic Characteristics ◽  
Deficiency Type

scholarly journals Novel mutations identified in the Chinese Han population with keratoconus by next-generation sequencing

2020 ◽  
Author(s):  
Binbin Chen ◽  
Xiaoning Yu ◽  
Xin Zhang ◽  
Hao Yang ◽  
Yilei Cui ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Chinese Han Population ◽  
Chinese Patients ◽  
Genome Wide Association Studies ◽  
Next Generation ◽  
Sequencing Technology ◽  
Novel Mutations ◽  
Chinese Han ◽  
Han Population ◽  
Generation Sequencing

Abstract BACKGROUND Keratoconus (KC) is characterized by bilateral progressive corneal thinning and ectasia. The prevalence of KC is approximately 8.8 to 54.4 per 100,000 individuals across the globe. Genetic factors have been shown to contribute to the pathogenesis of KC. This study will identify new mutations in the susceptibility gene of keratoconus (KC) in the Chinese Han population. METHODS A total of fifty-two patients with primary KC were recruited. Blood samples were collected, and genomic DNA was isolated from peripheral blood leukocytes. The entire coding region, intron–exon junctions, and promoter regions of sixteen known KC susceptibility genes were screened with next-generation sequencing technology, and all identified variants were further confirmed using the Sanger sequencing technology. The Sorting Intolerant from Tolerant (SIFT), Mutation Taster and PolyPhen 2 programs were used to predict the effect of amino acid substitution on protein. RESULTS After removing twelve known SNPs (single nucleotide polymorphisms) and three variants predicted to be harmless, nine novel mutations were identified in eight of the fifty-two patients, including c.455C > T:p.P152L in FNDC3B, c.3636_3637del:p.R1212fs in COL4A4, c.5015G > T:p.R1672L, c.3798dupA:p.P1267fs and c.28G > A:p.A10T in MPDZ, c.1940C > T:p.P647L in DOCK9, c.127_128insGGC:p.Q43delinsRQ in POLG, c.3019G > A:p.V1007I in IPO5, and c.624 + 7->A in TGFBI. All nine mutations in the patients with KC were heterozygote. CONCLUSION This study enlarged the gene profile of KC and should be further confirmed by well-powered, genome-wide association studies (GWAS) of Han Chinese patients.

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