Results 11 to 20 of about 314 (196)

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

Frontiers in Genetics
Marfan syndrome (MFS MIM#154700), due to pathogenic variants in the FBN1 gene, is an autosomal dominant connective tissue disorder, typically involving the skeletal, cardiovascular and ocular systems.
Qingming Wang, Fang Zhang, Xinlong Zhou, Hui Li, Juan Zhao, Haiming Yuan   +5 more
doaj   +3 more sources

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Molecular Genetics and Metabolism Reports, 2021
Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene panel
Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons   +6 more
doaj   +3 more sources

Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement

The Application of Clinical Genetics
Guobing Zheng,1,* Chenxia Xu,1,* Fenghua Xie,1 Qiaoli Li,2 Zhanhui Ou,3 Degang Wang,1 Haijun Li1 1Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, 528400, People’s Republic of China; 2Department of ...
Zheng G, Xu C, Xie F, Li Q, Ou Z, Wang D, Li H   +6 more
doaj   +2 more sources

Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome

JID Innovations
Whole-genome sequencing can uncover clinically significant noncoding variants missed by standard germline testing, as demonstrated in this report in a patient with Muir–Torre syndrome, a subtype of Lynch syndrome.
Fiona Chan-Pak-Choon, Andrew Y. Shuen, Evan Weber, Lili Fu, Barbara Rivera, William D. Foulkes   +5 more
doaj   +3 more sources

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing

Orphanet Journal of Rare Diseases, 2023
Background Phenylketonuria (PKU) is an autosomal recessive congenital metabolic disorder caused by PAH variants. Previously, approximately 5% of PKU patients remained undiagnosed after Sanger sequencing and multiplex ligation-dependent probe ...
Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma   +12 more
doaj   +1 more source

Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation [PDF]

Human Mutation, 2019
Our comprehensive cohort of 1100 unrelated achromatopsia (ACHM) patients comprises a considerable number of cases (~5%) harboring only a single pathogenic variant in the major ACHM gene CNGB3. We sequenced the entire CNGB3 locus in 33 of these patients to find a second variant which eventually explained the patients' phenotype.
Weisschuh, Nicole, Sturm, Marc, Baumann, Britta, Audo, Isabelle, Ayuso, Carmen, Bocquet, Beatrice, Branham, Kari, Brooks, Brian, Catalá-Mora, Jaume, Giorda, Roberto, Heckenlively, John, Hufnagel, Robert, Jacobson, Samuel, Kellner, Ulrich, Kitsiou-Tzeli, Sofia, Matet, Alexandre, Martorell Sampol, Loreto, Meunier, Isabelle, Rudolph, Günther, Sharon, Dror, Stingl, Katarina, Streubel, Berthold, Varsányi, Balázs, Wissinger, Bernd, Kohl, Susanne   +24 more
openaire   +6 more sources

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Genome Biology, 2023
Predicting the impact of coding and noncoding variants on splicing is challenging, particularly in non-canonical splice sites, leading to missed diagnoses in patients.
Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, Mark J. Cowley   +17 more
doaj   +1 more source

Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease

Orphanet Journal of Rare Diseases, 2022
Background Fabry disease (FD, OMIM #301500) is an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A (α-GalA), encoded by the GLA gene.
Xuantong Dai, Xue Zong, Xiaoxia Pan, Wei Lu, Geng-Ru Jiang, Fujun Lin   +5 more
doaj   +1 more source

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases

Frontiers in Genetics, 2021
High throughput sequencing technologies have revolutionized the identification of mutations responsible for a diverse set of Mendelian disorders, including inherited retinal disorders (IRDs). However, the causal mutations remain elusive for a significant
Xinye Qian, Xinye Qian, Jun Wang, Jun Wang, Meng Wang, Meng Wang, Austin D. Igelman, Kaylie D. Jones, Yumei Li, Keqing Wang, Kerry E. Goetz, David G. Birch, Paul Yang, Mark E. Pennesi, Rui Chen, Rui Chen   +15 more
doaj   +1 more source

FOXP3 deep intronic variant underlying IPEXPathogenic FOXP3 deep intronic variant [PDF]

Journal of Human Immunity
We report a deep intronic FOXP3 pathogenic variant that was investigated by RNA sequencing in heterozygous female carriers.
Pierre Gaufryau, Marie-Claude Stolzenberg, Nathalie Lambert, Philipp Peters, Iben El Missaoui, Najiba Alioua, Sylvain Hanein, Mohamed Hamici, Patrick Nitschké, Peng Zhang, Jacinta Bustamante, Bénédicte Neven, Capucine Picard, Frédéric Rieux-Laucat, Jérémie Rosain   +14 more
doaj   +1 more source