Results 1 to 10 of about 880,486 (157)

Compound heterozygous splicing and missense variants in MYO7A in a Chinese patient with Usher syndrome [PDF]

Frontiers in Medicine
ObjectiveThe objectives of the present study were to identify the genetic variations in a Chinese patient with Usher syndrome and to determine the pathogenicity of the identified variations.MethodsWhole-exome sequencing was performed for the proband ...
Juyi Li, Huihui Mao, Lu Li, Xiufang Wang, Guohua Yang, Jiguo Yu, Aiping Deng, Jifa Hu, Dan Wu, Peiyan Zhan, Yingbo Li   +10 more
doaj   +2 more sources

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis. [PDF]

Mol Genet Genomic Med
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Liu Q, Cheng X, Zheng B, Wang C, Zhou W, Zhang A.   +5 more
europepmc   +2 more sources

Identification of the MYH6 c.804G>C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family. [PDF]

Mol Genet Genomic Med
Although in silico tools predicted minimal splicing impact, functional minigene assays demonstrate that the synonymous MYH6 c.804G>C variant induces partial exon 10 skipping (~6.8% in HEK293T cells and ~4.7% in HeLa cells), supporting its potential contribution to HCM pathogenesis.
Zhang S, Tang X, Yang L, Wang Y, Cui Y, Chen X.   +5 more
europepmc   +2 more sources

Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function [PDF]

Human Genome Variation
We report a child with severe developmental and epileptic encephalopathy carrying a rare SCN8A splice‑site variant. Although its pathogenicity was initially unclear, a minigene assay demonstrated aberrant splicing, indicating a loss‑of‑function mechanism.
Takashi Shibata, Tomoyuki Akiyama, Takuma Harasaki, Sachiko Miyamoto, Hirotomo Saitsu, Toshiki Takenouchi   +5 more
doaj   +2 more sources

A novel homozygous ARFGEF2 splice-site variant causing periventricular nodular heterotopia with microcephaly [PDF]

Frontiers in Pediatrics
BackgroundThe ARFGEF2 gene encodes the brefeldin A (BFA)-inhibited GEF2 protein (BIG2), which is distributed in the trans-Golgi network and plays a crucial role in neuronal proliferation and migration during cortical development through its regulation of
Xuefang Liu, Xuefang Liu, Xuefang Liu, Lingyu Pang, Lingyu Pang, Lingyu Pang, Jingjie Li, Jingjie Li, Jingjie Li, Jing Zhang, Jing Zhang, Jing Zhang, Wenjuan Wu, Wenjuan Wu, Wenjuan Wu, Xin Li, Xin Li, Xin Li, Yubing Gong, Yubing Gong, Yubing Gong, Yueying Dou, Yueying Dou, Yueying Dou, Fang Chen, Fang Chen, Fang Chen, Suzhen Sun, Suzhen Sun, Suzhen Sun   +29 more
doaj   +2 more sources

The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene. [PDF]

Mol Genet Genomic Med
We identified a deep intronic variant of PROK2 in one female patient with hypogonadotropic hypogonadism (HH) through whole‐genome sequencing (WGS). In vitro splicing assays and protein structure predictions indicated that this variant was likely pathogenic and might lead to this disease.
Chen J, Ma Y, Li L, Peng H, Jiang H.
europepmc   +2 more sources

Functional analysis of BRCA1 and BRCA2 splicing variants using a minigene assay

Human Genomics
Background BRCA1 and BRCA2, known as tumor suppressor genes, have been shown to increase the risk of developing breast and ovarian cancer. Intronic variants that can result in aberrant splicing events are classified as Variant uncertain significance ...
Hara Yim, Seonhoo Youn, Seung Won Chae, Yeseul Kim, Joowon Jang, Sung Im Cho, Jee-Soo Lee, Moon-woo Seong   +7 more
doaj   +2 more sources

A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay [PDF]

Scientific Reports
This study aimed to identify the genetic cause of Ehlers-Danlos syndrome (EDS) in a Chinese family and to evaluate the functional impact of a deep intronic COL5A1 variant using a minigene assay.
Jie Zhao, Jingjing Feng
doaj   +2 more sources

Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome [PDF]

Frontiers in Medicine
Alport syndrome (AS) is a genetically heterogeneous disorder caused by mutations in type IV collagen genes, clinically characterized by progressive renal function deterioration. Despite advances in genetic screening technologies, cases resulting from non-
Xue Wang, Xue Wang, Linlin Dong, Linlin Dong, Hui Qiu, Hui Qiu, Beibei Wang, Beibei Wang, Sanfeng Wang, Sanfeng Wang, Weiran Zhou, Weiran Zhou   +11 more
doaj   +2 more sources

Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts [PDF]

BMC Medical Genomics
Background Mutations in RAB3GAP2 are associated with Martsolf syndrome 1, characterized by postnatal microcephaly, congenital cataracts, and developmental delay.
Xuemei Tan, Yuanyuan Huang, Xiaobao Wei, Qiurong Lai, Lang Pang, Jiquan Lan, Qingnan Liu, Jiangfeng Qin, Fangfang Zeng, Lizhu Chen, Dejian Yuan   +10 more
doaj   +2 more sources