Results 171 to 180 of about 314 (196)

Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy

Neuromuscular Disorders, 2017
Dystrophinopathies are X-linked muscle diseases caused by mutations in the large DMD gene. The most common mutations are detected by standard diagnostic techniques. However, some patients remain without detectable mutation, most likely due to changes in the non-coding sequence. We report on a boy with complete absence of dystrophin in muscle biopsy but
Zaum, Ann-Kathrin, Stüve, Burkhard, Gehrig, Andrea, Kölbel, Heike, Schara, Ulrike, Kress, Wolfram, Rost, Simone   +6 more
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A novel deep intronic low penetrance RB1 variant in a retinoblastoma family

Ophthalmic Genetics, 2017
Retinoblastoma is a malignant retinal tumor of infancy and childhood that arises after biallelic disruption of the RB1 gene on chromosome 13 (1).
Sameh E, Soliman, Hilary, Racher, Melissa, Lambourne, Donco, Matevski, Heather, MacDonald, Brenda, Gallie   +5 more
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A novel deep intronic variant in LAMA2 identified by RNA sequencing

Neuromuscular Disorders
LAMA2-related muscular dystrophy is caused by pathogenic variants of the alpha2 subunit of Laminin. This common form of muscular dystrophy is characterized by elevated CK >1000IU/L, dystrophic changes on muscle biopsy, complete or partial absence of merosin staining, and both central and peripheral nervous system involvement.
Djurdja Djordjevic, Issa Alawneh, Kimberly Amburgey, Kyoko E. Yuki, Lianna G Kyriakopoulou, Vilma Navickiene, Jim Stavropoulos, Grace Yoon, James J Dowling, Hernan Gonorazky   +9 more
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A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome

American Journal of Medical Genetics Part A
ABSTRACTWe report a female patient with a de novo deep intronic variant in NSD1 detected by whole genome sequencing (WGS). RNA‐seq revealed the creation of a novel exon (exonization), and methylation analysis showed an episignature pattern overlapping with Sotos syndrome patients with well‐established pathogenic NSD1 variants, confirming the diagnosis ...
Alejandro Parra, Mario Cazalla, Juan A. Jimenez‐Estrada, Cristina Silván, Lucía Miranda‐Alcaraz, Natalia Gallego‐Zazo, Mónica Mora‐Gómez, Manuel Rodríguez‐Canó, Pedro Arias, Carlos Rodríguez‐Antolín, Julián Nevado, Víctor Luis Ruiz Pérez, Jair Tenorio‐Castano, Pablo Lapunzina   +13 more
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Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria

Human Mutation, 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, we performed whole-genome sequencing for four patients with PKU and unknown genotypes to identify deep ...
Xiaohua Jin, Yousheng Yan, Chuan Zhang, Ya Tai, Lisha An, Xinyou Yu, Linlin Zhang, Shengju Hao, Xiaofang Cao, Chenghong Yin, Xu Ma   +10 more
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Editors' Corner: Unmasking deep intronic variants

Gene
In this edition of Gene's "Editor's Corner", we highlight the growing importance of deep intronic variants, which are increasingly recognised as pathogenic contributors to hereditary disorders that remain unsolved after whole-exome sequencing (WES). Recent studies using whole genome sequencing (WGS), which, in contrast to WES, captures most noncoding ...
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Introns in action: decoding deep intronic MYBPC3 variants in hypertrophic cardiomyopathy with patient-derived iPSCs

European Heart Journal
Abstract Background Hypertrophic Cardiomyopathy (HCM) is the most common inherited cardiovascular disease and a leading cause of sudden death. Despite decades of research and advancements in sequencing technologies, the yield of genetic testing remains poor with up to 60% of individuals ...
J Jager, M Ribeiro, M Furtado, T Carvalho, P Syrris, L R Lopes, P Elliott, J M S Cabral, M Carmo-Fonseca, S Teixeira Da Rocha, S Martins   +10 more
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Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

Human Mutation, 2014
Variants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing" variants in these cases, we performed multiplex ligation-dependent probe amplification-based deletion scanning of ABCA4.
Bax, N.M., Sangermano, R., Roosing, S., Thiadens, A.A.H.J., Hoefsloot, L.H., van den Born, L.I., Phan, M., Klevering, B.J., Westeneng-van Haaften, S.C., Braun, T.A., Zonneveld-Vrieling, M.N., de Wijs, I., Mutlu, M., Stone, E.M., den Hollander, A.I., den Hollander, A.I., Klaver, C.C., Hoyng, C.B., Cremers, F.P.M.   +18 more
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Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy

Journal of Human Genetics
Aberrant inclusion of pseudoexons (PE) in mature mRNA is a rare splicing defect contributing to Duchenne muscular dystrophy (DMD) pathogenesis. In this study, we described two affected males from a Chinese family who presented with progressive muscle weakness, elevated creatine kinase (CK) levels, and dystrophic changes on muscle pathology.
Xingyu Xia, Kexin Jiao, Chaoping Hu, Nachuan Cheng, Mingshi Gao, Shiyi Xiong, Ningning Wang, Bochen Zhu, Meining Diao, Dongyue Yue, Jianying Xi, Chongbo Zhao, Chengwen Chen, Wenhua Zhu   +13 more
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A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia

American Journal of Respiratory Cell and Molecular Biology, 2022
Adam J. Shapiro, Jaclyn R. Stonebraker, Michael R. Knowles, Maimoona A. Zariwala   +3 more
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