Results 21 to 30 of about 4,405 (166)

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing

Orphanet Journal of Rare Diseases, 2021
Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu   +5 more
doaj   +1 more source

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Human Genome Variation, 2021
Recently, altered PLP1 splicing was confirmed as a genetic cause of hypomyelination of early myelinating structures (HEMS). A novel deep intronic deletion in intron 3 of PLP1 (NM_000533.5: c.453+59_+259del) was identified, and an in vitro minigene assay ...
Keiko Yamamoto-Shimojima, Hiroyuki Akagawa, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Toshiyuki Yamamoto   +5 more
doaj   +1 more source

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

Annals of Clinical and Translational Neurology, 2020
Objective To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. Methods We applied whole‐exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure at 26 years of ...
Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol   +11 more
doaj   +1 more source

Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome

Frontiers in Cardiovascular Medicine, 2021
Brugada syndrome (BrS) is a complexly genetically patterned, rare, malignant, life-threatening arrhythmia disorder. It is autosomal dominant in most cases and characterized by identifiable electrocardiographic patterns, recurrent syncope, nocturnal ...
Meng Yuan, Yi Guo, Hong Xia, Hongbo Xu, Hao Deng, Hao Deng, Hao Deng, Lamei Yuan, Lamei Yuan, Lamei Yuan   +9 more
doaj   +1 more source

Protocol for a minigene splice assay using the pET01 vector

STAR Protocols
Aberrant splicing plays a major role in hereditary disorders, yet characterizing molecular effects of splice variants poses challenges. Here, we present a protocol for an in vitro minigene splice assay using the pET01 vector. We describe steps for assay design, minigene plasmid cloning, transfection, RNA isolation, and cDNA synthesis.
Hannah Andreae, Marialessandra Curcio, Daniel Owrang, Sahar Esmaeelpour, Friederike Jahnke, Fritz Benseler, Nils Brose, Barbara Vona   +7 more
openaire   +5 more sources

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

BMC Nephrology, 2017
Background Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap ...
Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Shogo Minamikawa, Nobuo Mori, Rika Fujimaru, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Taniguchi-Ikeda Mariko, Ichiro Morioka, Masafumi Matsuo, Kazumoto Iijima   +15 more
doaj   +1 more source

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15 [PDF]

Frontiers in Genetics, 2019
A relevant fraction of BRCA2 variants is associated with splicing alterations and with an increased risk of hereditary breast and ovarian cancer (HBOC). In this work, we have carried out a thorough study of variants from BRCA2 exons 14 and 15 reported at mutation databases.
Fraile Bethencourt, Eugenia, Valenzuela Palomo, Alberto, Díez Gómez, Beatriz, Caloca, María José, Gómez Barrero, Susana, Velasco Sampedro, Eladio Andrés   +5 more
openaire   +5 more sources

Effect of RHAG variants identified in Chinese population on RHAG mRNA splicing in vitro

Zhongguo shuxue zazhi, 2023
Objective To study the effect of RHAG variants identified in Chinese population on mRNA splicing by minigene splicing assay(MSA) in vitro. Methods The pSplicePOLR2G minigene expression plasmids were constructed for 10 RHAG mutations with relatively high ...
Shuangshuang JIA, Mingming SUN, Jizhi WEN, Ling WEI, Guangping LUO, Yanli JI   +5 more
doaj   +1 more source

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing

Frontiers in Genetics, 2022
Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in COL2A1. Here, we detected a novel variant c.3392G > T (NM_001844.4) of COL2A1 in a Chinese family with SEDC by targeted next-generation
Lihong Fan, Longfei Ji, Yuqing Xu, Guosong Shen, Kefeng Tang, Zhi Li, Sisi Ye, Xueping Shen   +7 more
doaj   +1 more source

Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay

Frontiers in Genetics, 2022
Background: Bartter syndrome (BS) is a rare renal tubular disease caused by gene variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND or MAGED2 genes. There is growing evidence that many exonic mutations can affect the pre-mRNA normal splicing and induce exon skipping by altering various splicing regulatory signals.
Qing Xin, Qihua Liu, Zhiying Liu, Xiaomeng Shi, Xuyan Liu, Ruixiao Zhang, Yefeng Hong, Xiangzhong Zhao, Leping Shao   +8 more
openaire   +3 more sources