scholarly journals X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Yangyan Xiao ◽  
Xiao Liu ◽  
Luosheng Tang ◽  
Xia Wang ◽  
Terry G. Coursey ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Macular Degeneration ◽  
Clinical Characteristics ◽  
Phenotypic Variability ◽  
Initiation Codon ◽  
Chinese Family ◽  
Phenotypic Variance ◽  
Novel Mutations ◽  
Juvenile Retinoschisis ◽  
Neurosensory Retina

Abstract X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the initiation codon of the RS1 gene. by direct sequencing.Identification of this mutation in this family provides evidence about potential genetic or environmental factors on its phenotypic variance, as patients presented with different phenotypes regardless of having the same mutation. Importantly, OCT has proven vital for XLRS diagnosis in children.

Two novel Mutations of the LPL Gene in two Chinese family cases with Familial Chylomicronemia Syndrome

2021 ◽  
Author(s):  
Mingying Wang ◽  
Yuantao Zhou ◽  
Xiaoli He ◽  
Chengjun Deng ◽  
Xiaoning Liu ◽  
...  
Keyword(s):  
Chinese Family ◽  
Novel Mutations ◽  
Lpl Gene

Incidence and baseline clinical characteristics of treated neovascular age-related macular degeneration in a well-defined region of the UK

2013 ◽  
Vol 97 (9) ◽  
pp. 1168-1172 ◽  
Author(s):  
Tiarnan D L Keenan ◽  
Simon P Kelly ◽  
Ahmed Sallam ◽  
Quresh Mohamed ◽  
Adnan Tufail ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Clinical Characteristics ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
The Uk

scholarly journals Striking Cardiac Phenotypic Variability in A Chinese Family With A MYH7 Splice Site Mutation

2021 ◽  
Author(s):  
Peng Tu ◽  
Hairui Sun ◽  
Xiaohang Zhang ◽  
Qian Ran ◽  
suzhen Ran ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Phenotypic Variability ◽  
Splice Site Mutation ◽  
Left Ventricular ◽  
Chinese Family ◽  
Site Mutation ◽  
Cardiac Phenotype ◽  
Whole Exome

Abstract Background: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect (CHD), genetics defects have been found in patients with LVNC and their family members; and MYH7 is the most common genetic associated with LVNC. Methods: A trio (fetus and the parents) whole-exome sequencing (WES) was performed when the fetus was found with Ebstein's anomaly (EA), heart dilatation, perimembranous ventricular septal defects (VSD), mild seroperitoneum and single umbilical artery (SUA).Results: Whole-exome sequencing identified a maternal inherited heterozygous splice site mutation in MYH7 (NM_000257.3:c.732+1G>A). Subsequent Sanger sequencing confirmed that the mutation was heterozygous in the fetus, the old sister, the grandmother, and the mother. QPCR experiment using RNA from blood lymphocytes but were unable to amplify any product.Conclusion: This familial case underlines that the striking cardiac phenotypic of MYH7 mutation (the c.732+1G>A spice site variant) may be highly variable. The mechanistic studies which could uncover candidate genes modulating cardiac phenotype associated with LVNC/EA should be proceed.

scholarly journals A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

PLoS ONE ◽  
2013 ◽  
Vol 8 (11) ◽  
pp. e78274 ◽  
Author(s):  
Fang Lu ◽  
Lulin Huang ◽  
Chuntao Lei ◽  
Guiquan Sha ◽  
Hong Zheng ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Macular Degeneration ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Autosomal Dominant Retinitis Pigmentosa

GENETIC AND ENVIRONMENTAL FACTORS ASSOCIATED WITH RETICULAR PSEUDODRUSEN IN AGE-RELATED MACULAR DEGENERATION

Retina ◽  
2013 ◽  
Vol 33 (5) ◽  
pp. 998-1004 ◽  
Author(s):  
Nathalie Puche ◽  
Rocio Blanco-Garavito ◽  
Florence Richard ◽  
Nicolas Leveziel ◽  
Jennyfer Zerbib ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Factors Associated ◽  
Reticular Pseudodrusen ◽  
Age Related ◽  
Genetic And Environmental Factors

Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome

2020 ◽  
Vol 63 (10) ◽  
pp. 104003 ◽  
Author(s):  
Dongxiao Li ◽  
Jinqing Song ◽  
Xiyuan Li ◽  
Yi Liu ◽  
Hui Dong ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Chinese Patients ◽  
Novel Mutations ◽  
Thiamine Metabolism

scholarly journals Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in China

2020 ◽  
Author(s):  
Feng‐Juan Gao ◽  
Jian‐Hong Dong ◽  
Dan‐Dan Wang ◽  
Fang Chen ◽  
Fang‐Yuan Hu ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Comprehensive Analysis ◽  
Juvenile Retinoschisis

scholarly journals Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

Genes ◽  
2020 ◽  
Vol 11 (5) ◽  
pp. 574
Author(s):  
Thomas Grange ◽  
Mélodie Aubart ◽  
Maud Langeois ◽  
Louise Benarroch ◽  
Pauline Arnaud ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Clinical Features ◽  
Familial Aggregation ◽  
Phenotypic Variability ◽  
Connective Tissue Disorder ◽  
Clinical Feature ◽  
Phenotypic Variance ◽  
Genetic Modifiers ◽  
Clinical Variability ◽  
New Strategy

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with considerable inter- and intra-familial clinical variability. The contribution of inherited modifiers to variability has not been quantified. We analyzed the distribution of 23 clinical features in 1306 well-phenotyped MFS patients carrying FBN1 mutations. We found strong correlations between features within the same system (i.e., ophthalmology vs. skeletal vs. cardiovascular) suggesting common underlying determinants, while features belonging to different systems were largely uncorrelated. We adapted a classical quantitative genetics model to estimate the heritability of each clinical feature from phenotypic correlations between relatives. Most clinical features showed strong familial aggregation and high heritability. We found a significant contribution by the major locus on the phenotypic variance only for ectopia lentis using a new strategy. Finally, we found evidence for the “Carter effect” in the MFS cardiovascular phenotype, which supports a polygenic model for MFS cardiovascular variability and indicates additional risk for children of MFS mothers with an aortic event. Our results demonstrate that an important part of the phenotypic variability in MFS is under the control of inherited modifiers, widely shared between features within the same system, but not among different systems. Further research must be performed to identify genetic modifiers of MFS severity.

Clinical Characteristics of Exudative Age-related Macular Degeneration in Japanese Patients

2007 ◽  
Vol 144 (1) ◽  
pp. 15-22.e2 ◽  
Author(s):  
Ichiro Maruko ◽  
Tomohiro Iida ◽  
Masaaki Saito ◽  
Dai Nagayama ◽  
Kuniharu Saito
Keyword(s):  
Macular Degeneration ◽  
Clinical Characteristics ◽  
Japanese Patients ◽  
Age Related Macular Degeneration ◽  
Age Related
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