Results 21 to 30 of about 314 (196)

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

Molecular Therapy: Nucleic Acids, 2022
Stargardt disease is an autosomal recessively inherited retinal disorder commonly caused by pathogenic variants in the ABCA4 gene encoding the ATP-binding cassette subfamily A member 4 (ABCA4) protein.
Pietro De Angeli, Peggy Reuter, Stefan Hauser, Ludger Schöls, Katarina Stingl, Bernd Wissinger, Susanne Kohl   +6 more
doaj   +1 more source

A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia [PDF]

Circulation: Genomic and Precision Medicine, 2018
Background: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high plasma LDL-C (low-density lipoprotein-cholesterol) levels. The vast majority of FH patients carry a mutation in the coding region of LDLR , APOB , or ...
Laurens F. Reeskamp, Merel L. Hartgers, Jorge Peter, Geesje M. Dallinga-Thie, Linda Zuurbier, Joep C. Defesche, Aldo Grefhorst, G. Kees Hovingh   +7 more
openaire   +1 more source

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease

Frontiers in Genetics, 2022
Background: Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in ATP7A gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient
Xiufang Zhi, Xiufang Zhi, Qi Ai, Qi Ai, Wenchao Sheng, Wenchao Sheng, Yuping Yu, Yuping Yu, Jianbo Shu, Jianbo Shu, Jianbo Shu, Changshun Yu, Xiaoli Yu, Xiaoli Yu, Dong Li, Dong Li, Chunquan Cai, Chunquan Cai, Chunquan Cai   +18 more
doaj   +1 more source

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing

Clinical Genetics, 2023
Abstract Whole‐genome sequencing (WGS) now allows identification of multiple variants in non‐coding regions. The large number of variants identified by WGS however complicates their interpretation. Through identification of the first deep intronic variant in NPHS2 , which ...
Marie Dirix, Olivier Gribouval, Christelle Arrondel, Saadia Benjelloun, Olivia Boyer, Marina Charbit, Corinne Antignac, Laurence Heidet, Guillaume Dorval   +8 more
openaire   +2 more sources

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia

Frontiers in Genetics, 2022
Ataxia–telangiectasia (AT) is a complex neurodegenerative disease with an increased risk for bone marrow failure and malignancy. AT is caused by biallelic loss of function variants in ATM, which encodes a phosphatidylinositol 3-kinase that responds to ...
Tatiana Maroilley, Tatiana Maroilley, Tatiana Maroilley, Nicola A. M. Wright, Nicola A. M. Wright, Catherine Diao, Catherine Diao, Catherine Diao, Linda MacLaren, Linda MacLaren, Gerald Pfeffer, Gerald Pfeffer, Justyna R. Sarna, Ping Yee Billie Au, Ping Yee Billie Au, Maja Tarailo-Graovac, Maja Tarailo-Graovac, Maja Tarailo-Graovac   +17 more
doaj   +1 more source

A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.

Circulation. Genomic and precision medicine, 2018
Familial hypercholesterolemia (FH) is an inherited disorder characterized by high plasma LDL-C (low-density lipoprotein-cholesterol) levels. The vast majority of FH patients carry a mutation in the coding region of LDLR, APOB, or PCSK9. We set out to identify the culprit genetic defect in a large family with clinical FH, in whom no mutations were ...
Reeskamp, Laurens F., Hartgers, Merel L., Peter, Jorge, Dallinga-Thie, Geesje M., Zuurbier, Linda, Defesche, Joep C., Grefhorst, Aldo, Hovingh, G. Kees   +7 more
openaire   +2 more sources

Identification of novel deep intronic PAH gene variants in patients with phenylketonuria [PDF]

, 2021
Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) gene variants. Previously, 94.21% of variants were identified using Sanger sequencing and multiplex ligation-dependent probe amplification. To investigate the remaining variants, whole-genome sequencing (WGS) was performed in four patients with PKU with unknown genotype to identify deep
Xiaohua Jin, Yousheng Yan, Chuan Zhang, Ya Tai, Lisha An, Xinyou Yu, Linlin Zhang, Xiaofang Cao, Shengju Hao, Chenghong Yin, Xu MA   +10 more
openaire   +1 more source

Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease

Cells, 2022
Stargardt disease is an inherited retinal disease caused by biallelic mutations in the ABCA4 gene, many of which affect ABCA4 splicing. In this study, nine antisense oligonucleotides (AONs) were designed to correct pseudoexon (PE) inclusion caused by a ...
Tomasz Z. Tomkiewicz, Sara E. Nieuwenhuis, Frans P. M. Cremers, Alejandro Garanto, Rob W. J. Collin   +4 more
doaj   +1 more source

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

BMC Medical Genomics, 2021
Background Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis.
Qiang Li, Yiting Wang, Yijun Pan, Jia Wang, Weishi Yu, Xiaodong Wang   +5 more
doaj   +1 more source

Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey

European Journal of Medical Genetics
Variation in the non-coding genome is being increasingly recognized to be involved in monogenic disease etiology. However, the interpretation of non-coding variation is complicated by a lack of understanding of how non-coding genetic elements function. Additional lines of evidence are therefore needed to recognize non-coding variants as pathogenic.
van der Smagt, Jasper J., Lampri, Angeliki P., de Lange, Iris, Alders, Mariëlle, Houben, Michiel L., Koudijs, Marco J., van Jaarsveld, Richard H.   +6 more
openaire   +5 more sources