Novel splice site mutation of SPG4 in a Chinese family with hereditary spastic paraplegia

2014 ◽  
Vol 35 (9) ◽  
pp. 1453-1455
Author(s):  
Xiaomin Liu ◽  
Jiyou Tang
Keyword(s):  
Splice Site ◽  
Hereditary Spastic Paraplegia ◽  
Splice Site Mutation ◽  
Chinese Family ◽  
Spastic Paraplegia ◽  
Site Mutation

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

2013 ◽  
Vol 56 (1) ◽  
pp. 43-45 ◽  
Author(s):  
Salma M. Wakil ◽  
Saeed Bohlega ◽  
Samya Hagos ◽  
Batoul Baz ◽  
Haya Al Dossari ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Spastic Paraplegia ◽  
Splice Site Mutation ◽  
Spastic Paraplegia ◽  
Site Mutation ◽  
Saudi Family

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.

A novel splice‐site mutation in the A TP2C1 gene of a Chinese family with Hailey‐Hailey disease

2018 ◽  
Vol 120 (3) ◽  
pp. 3630-3636 ◽  
Author(s):  
Heng Xiao ◽  
Xiangjun Huang ◽  
Hongbo Xu ◽  
Xiang Chen ◽  
Wei Xiong ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Chinese Family ◽  
Site Mutation

A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex

2018 ◽  
Vol 41 (8) ◽  
pp. 909-917
Author(s):  
J. Fu ◽  
F. Lai ◽  
Y. Chen ◽  
X. Wan ◽  
G. Wei ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Carney Complex ◽  
Chinese Family ◽  
Site Mutation

A 3′ splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II

Gene ◽  
2013 ◽  
Vol 528 (2) ◽  
pp. 236-240 ◽  
Author(s):  
Ping Jin ◽  
Jing-Wen Hao ◽  
Ke Chen ◽  
Chang-sheng Dong ◽  
You-Bo Yang ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Chinese Family ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Site Mutation

scholarly journals A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome

2021 ◽  
Vol 9 ◽  
Author(s):  
Liangshan Li ◽  
Xiangmao Bu ◽  
Yuhua Ji ◽  
Ping Tan ◽  
Shiguo Liu
Keyword(s):  
Splice Site ◽  
Reverse Transcription ◽  
Sanger Sequencing ◽  
Splice Site Mutation ◽  
Chinese Family ◽  
Sequencing Analysis ◽  
Site Mutation ◽  
Transcription Analysis ◽  
Cohen Syndrome ◽  
The Impact

Background: Cohen syndrome (CS) is a clinically heterogeneous disorder characterized by extensive phenotypic variation with autosomal recessive inheritance. VPS13B was identified to be the disease-causing gene for CS. The objectives of the present study were to screen likely pathogenic mutations of the patient with developmental delay and mental retardation, and to determinate the effect of this splice-site mutation by reverse transcription analysis.Methods: Whole exome sequencing (WES) in combination with Sanger sequencing were performed to identify the causative mutations of this CS family. Subsequently, the impact of the intronic variant on splicing was analyzed by reverse transcription and the construction of expression vector.Results: A novel homozygous splice-site mutation (c.6940+1G>T) in the VPS13B gene was identified in this proband. Sanger sequencing analysis of the cDNA demonstrated that the c.6940+1G>T variant could cause the skipping of entire exon 38, resulting in the loss of 208 nucleotides and further give rise to the generation of a premature in-frame stop codon at code 2,247.Conclusions: The homozygous VPS13B splicing variant c.6940+1G>T was co-segregated with the CS phenotypes in this family and was identified to be the cause of CS after comprehensive consideration of the clinical manifestations, genetic analysis and cDNA sequencing result.

scholarly journals AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria

2018 ◽  
Vol 4 (5) ◽  
pp. e273 ◽  
Author(s):  
Susana Carmona ◽  
Clara Marecos ◽  
Marta Amorim ◽  
Ana C. Ferreira ◽  
Carla Conceição ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Spastic Paraplegia ◽  
Site Mutation
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