Results 31 to 40 of about 2,902,010 (219)

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 TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency [PDF]

, 2021
Complex I deficiency is the most common pediatric mitochondrial disease. It can cause a wide range of clinical disorders, including Leigh syndrome.
Nievelstein, Rutger A J, van Jaarsveld, Richard H, van Hasselt, Peter M, Cuppen, Inge, Oegema, Renske, Hellebrekers, Debby   +5 more
core   +2 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 of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy [PDF]

, 2020
Pseudo-exon inclusion caused by deep intronic variants is an important genetic cause for various disorders. Here, we present a case of a hypomyelinating leukodystrophy with developmental delay, intellectual disability, autism spectrum disorder and ...
Hiraide, Takuya, Takuya Hiraide, Osaka, Hitoshi, Takahiro Ikeda, Mitsuko Nakashima, Ikeda, Takahiro, Saitsu, Hirotomo, Hitoshi Osaka, Daisuke Tanaka, Hirotomo Saitsu, Nakashima, Mitsuko, Tanaka, Daisuke   +11 more
core   +2 more sources

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

glarue/intronIC: intronIC v1.2.0

, 2020
intronIC v1.2.0 Fix GridSearchCV regression with newer versions of scikit-learn (>v0.22) (see issue #1) Due to scikit-learn's inversion of a default flag in GridSearchCV, intronIC must now require scikit-learn to be at least v0.22 This fix breaks ...
Graham Larue
core   +1 more source

Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome [PDF]

, 2023
Aicardi-Goutières syndrome (AGS) is a progressive multisystem disorder including encephalopathy with significant impacts on intellectual and physical abilities. An early diagnosis is becoming ever more crucial, as targeted therapies are emerging.
Leung, Marco, Leung, Marco L, Schord, Shauna, Crow, Yanick, Woodhull, Whitney, Crow, Yanick J, Rodriguez, Diana P, Uggenti, Carolina, Mato, Raul Perez, Mori, Mari, Ream, Margie, Rodriguez, Diana   +11 more
core   +1 more source

glarue/intronIC: intronIC v1.1.1

, 2020
intronIC v1.1.1 Replace parent-child hierarchical clustering of annotation features with simpler, directed graph-based approach Fix occasional issues where parent genes of CDS/exon features weren't correctly ...
Graham Larue
core   +1 more source

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

Annals of Clinical and Translational Neurology, 2020
Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) were performed using patient's DNA sample.
Edgard Verdura, Agatha Schlüter, Gorka Fernández‐Eulate, Raquel Ramos‐Martín, Miren Zulaica, Laura Planas‐Serra, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Adolfo López de Munain, Aurora Pujol   +10 more
doaj   +1 more source