Results 31 to 40 of about 6,757 (149)

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

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

Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa

Molecular Genetics & Genomic Medicine, 2020
Background Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss‐
Neng Yang, Yongyi Ma, Hong Yao, Qing Chang, Victor Zhang, Zhiqing Liang, Xiongwei Cai   +6 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

Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons [PDF]

Human Mutation, 2015
Numerous pathogenic DNA variants impair the splicing mechanism in human genetic diseases. Minigenes are optimal approaches to test variants under the splicing viewpoint without the need of patient samples. We aimed to design a robust minigene construct of the breast cancer gene BRCA2 in order to investigate the impact of variants on splicing.
Acedo, Alberto, Hernández-Moro, Cristina, Curiel-García, Álvaro, Díez-Gómez, Beatriz, Velasco, Eladio   +4 more
openaire   +3 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

Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene

Frontiers in Pediatrics, 2022
Proximal renal tubular acidosis (pRTA) with ocular abnormalities is an autosomal recessive disease caused by variants in the Solute Carrier Family 4 Member 4 (SLC4A4) gene. Patients present with metabolic acidosis and low plasma bicarbonate concentration
Yan Liu, Wenchao Sheng, Wenchao Sheng, Wenchao Sheng, Jinying Wu, Jinying Wu, Jie Zheng, Jie Zheng, Xiufang Zhi, Xiufang Zhi, Xiufang Zhi, Shuyue Zhang, Shuyue Zhang, Shuyue Zhang, Chunyu Gu, Chunyu Gu, Chunyu Gu, Detong Guo, Detong Guo, Detong Guo, Wenhong Wang   +20 more
doaj   +1 more source

Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance [PDF]

Genes
Background/objectives: Obtaining a genetic diagnosis for patients with inherited retinal diseases has become even more important since gene-specific therapies have become available. When genetic screening reveals variants of uncertain significance (VUS), additional evidence is required to determine genetic eligibility for therapy. Confirming the effect
Daan M. Panneman, Erica G. M. Boonen, Zelia Corradi, Frans P. M. Cremers, Susanne Roosing   +4 more
openaire   +3 more sources

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series

BMC Nephrology, 2021
Background Alport syndrome (AS), which is a rare hereditary disease caused by mutations of genes including COL4A3, COL4A4 and COL4A5, has a wide spectrum of phenotypes.
Jing Wu, Jun Zhang, Li Liu, Bo Zhang, Tomohiko Yamamura, Kandai Nozu, Masafumi Matsuo, Jinghong Zhao   +7 more
doaj   +1 more source

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay [PDF]

Human Mutation, 2020
ABSTRACT Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. In order to explore an often overlooked splicing effect of missense variants, we developed the functional assay (“minigene”) for the majority of exons of CAPN3
Dionnet, Eugénie, Defour, Aurélia, da Silva, Nathalie, Salvi, Alexandra, Levy, Nicolas, Krahn, Martin, Bartoli, Marc, Puppo, Francesca, Gorokhova, Svetlana   +8 more
openaire   +2 more sources