Results 71 to 80 of about 537,790 (185)

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.

Eur J Med Genet
Genetic variants in ATP7A are associated with a spectrum of X-linked disorders. In descending order of severity, these are Menkes disease, occipital horn syndrome, and X-linked distal spinal muscular atrophy.
Harkness JR, Thomas HB, Urquhart JE, Jamieson P, Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG.   +8 more
europepmc   +2 more sources

A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay

Scientific Reports
This study aimed to identify the genetic cause of Ehlers-Danlos syndrome (EDS) in a Chinese family and to evaluate the functional impact of a deep intronic COL5A1 variant using a minigene assay.
Jie Zhao, Jingjing Feng
doaj   +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

Generation of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene

Stem Cell Research
Pathogenic variants in the phenylalanine hydroxylase (PAH) gene cause phenylketonuria (PKU), a disorder characterized by neurotoxicity and impaired postnatal cognitive development.
Yu Wang, Lisha An, Huimin Gao, Chuan Zhang, Lin Wang, Yanping Zhang, Lu Zhang, Yousheng Yan, Xiaohua Jin, Xu Ma   +9 more
doaj   +1 more source

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients

, 2015
Autosomal-recessive Stargardt disease (STGD1) is hallmarked by a large proportion of patients with a single heterozygous causative variant in the disease gene ABCA4. Braun et al.
Weisschuh, Nicole, De Baere, Elfride, Leroy, Bart B.P., Bauwens, Miriam, De Rademaeker, Marjan, De Ravel, Thomy, Leroy, Bart P., Dahan, Karin, Meire, Françoise, Depasse, Fanny, Coppieters, Frauke, De Zaeytijd, Julie, Kohl, Susanne, De Jaegere, Sarah, Leroy, Bart, Loeys, Bart   +15 more
core   +1 more source

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome

Kidney International Reports
Introduction: X-linked Alport syndrome (XLAS) is a well-known monogenetic kidney disease caused by pathogenic variants in the COL4A5 gene. Routine analysis of exons and direct flanking regions fails to identify a pathogenic variant in 10% to 20% of ...
Dipti Rao, Bartholomeus T. van den Berge, Anneke T. Vulto-van Silfhout, Ilse M. Rood, Joanna A.E. van Wijk, Arend Bökenkamp, Layla Damen, Patrick Rump, Jasper J. van der Smagt, Jitske Jansen, Bart Smeets, Jack F. Wetzels, Rutger J. Maas, Michel van Geel   +13 more
doaj   +1 more source

A novel splice GCDH variant and analysis of splicing variants in glutaric aciduria type I

Egyptian Journal of Medical Human Genetics
Objectives Glutaric aciduria type I (GA-I) is an inborn error of metabolism caused by biallelic variants in the GCDH gene, disrupting lysine and tryptophan catabolism.
Nasrin Zamani, Mohammadi Sarband, Mirab Samiee, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh, Bahareh Rabbani   +6 more
doaj   +1 more source

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.

, 2022
Contains fulltext : 290898.pdf (Publisher’s version ) (Open Access)BACKGROUND: Gitelman syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia.
Karl-Peter Schlingmann, Femke Latta, Neveling, Kornelia, Konrad, Martin, Kwint, Michael, Hureaux, Marguerite, Schlingmann, Karl-Peter, Viering, Daan H.H.M., Marguerite Hureaux, Latta, F., Kornelia Neveling, Bindels, René J.M., Hureaux, M., Latta, Femke, Blanchard, A., Vargas-Poussou, Rosa, Neveling, K., Bindels, R.J.M., Vargas-Poussou, R., Baaij, J.H.F. de, Jeroen H.F. de Baaij, de Baaij, Jeroen H.F., Anne Blanchard, Daan H.H.M. Viering, Michael Kwint, Martin Konrad, Rosa Vargas-Poussou, Blanchard, Anne, Kwint, M.P., Konrad, M., Schlingmann, K.P., René J.M. Bindels, Viering, D.H.H.M.   +32 more
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

Whole-Genome Sequencing Identifies a Novel Deep Intronic ADAMTS17 Variant in Weill–Marchesani Syndrome 4

Background: Weill-Marchesani syndrome 4 (WMS4) is a rare autosomal recessive disorder caused by ADAMTS17 variants, yet deep intronic variants and their splicing-disruptive effects remain poorly explored, limiting diagnostic yields.
hu, huaying
core   +1 more source