Results 81 to 90 of about 537,790 (185)

A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts. [PDF]

Mol Genet Genomic Med
Objective We aimed to evaluate the genotype–phenotype relationship in two Chinese family members with enlarged vestibular aqueduct (EVA). Methods We collected blood samples and clinical data from each pedigree family member. Genomic DNA was isolated from
Wang S, Zhu YM, Xu C, Ding W, Jia H, Bian P, Xu B, Guo Y, Liu X.   +8 more
europepmc   +2 more sources

Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma

Human Mutation
DICER1 syndrome (OMIM 601200) is a rare autosomal dominant familial tumor susceptibility disorder with heterozygous DICER1 germline mutations. The most common tumor in clinical practice is pleuropulmonary blastoma. Pleuropulmonary blastoma is a rare pediatric lung tumor that begins during fetal lung development and is part of an inherited tumor ...
Rujin Tian, Yixiao Li, Lin Zhong, Haozheng Zhang, Zhongtao Gai, Dong Wang, Li Song, Kaihui Zhang   +7 more
openaire   +2 more sources

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation

HGG Advances
Summary: We report two rare homozygous variants, including a recurrent missense and intronic variant, in the EIF3K gene in four unrelated individuals with global developmental delay, microcephaly, proportionate short stature, dysmorphic craniofacial ...
Bobbi McGivern, Tess Holling, Maria J. Guillen Sacoto, Hákon Gudbjartsson, Ibrahim M. Abdelrazek, Malik Alawi, Yan Bai, Olaf Bodamer, Amy Crunk, Amy E. Dameron, Lisa M. Dyer, Lindsay B. Henderson, Mira Irons, Kerstin Kutsche, Caroline McGowan, Kristin G. Monaghan, Kaitlyn O’Connor, Asma Rashid, Olivia L. Redlich, Adi Reich, Christopher Simotas, Sara Welner, Ingrid M. Wentzensen   +22 more
doaj   +1 more source

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

, 2019
We establish autosomal recessive DES variants p.(Leu190Pro) and a deep intronic splice variant causing inclusion of a frameshift-inducing artificial exon/intronic fragment, as the likely cause of myopathy with cardiac involvement in female siblings. Both
Susan Brammah, Bryen, S.J., Evesson, F.J., Waddell, L.B., Ghaoui, R., Kritharides, L., Leigh B. Waddell, MacArthur, D.G., Min-Xia Wang, Alastair Corbett, Himanshu Joshi, Sandra T. Cooper, Joshi, H., Riley, L.G., Lisa G. Riley, Wang, M.X., Cooper, S.T., Brammah, S., Corbett, A., Frances J. Evesson, Beryl B. Cummings, Samantha J. Bryen, Daniel G. MacArthur, Cummings, B.B., Leonard Kritharides, Roula Ghaoui   +25 more
core   +1 more source

Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome

Frontiers in Genetics
Loeys-Dietz syndrome (LDS) is a connective tissue disorder representing a wide spectrum of phenotypes, ranging from isolated thoracic aortic aneurysm or dissection to a more severe syndromic presentation with multisystemic involvement.
Emily R. Gordon, Stephanie A. Felker, Stephanie A. Felker, Tanner F. Coleman, Tanner F. Coleman, Nadiya Sosonkina, Jada Pugh, Jada Pugh, Meagan E. Cochran, Meagan E. Cochran, Anna C. E. Hurst, Sara J. Cooper   +11 more
doaj   +1 more source

First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

, 2020
We report a Belgian boy presenting with severe growth delay, microcephaly and several immune defects suggestive of Bloom Syndrome, a rare genetic autosomal recessive disorder caused by germline mutations in the BLM/RECQL3 gene.
Vral, Anne, Claes, Kathleen, Lambrecht, Bart, De Bruyne, Marieke, Tavernier, Simon, Haerynck, Filomeen, Baeyens, Ans, Backers, Lynn, Parton, Bram, Vermeulen, Stephanie, Van Den Bogaert, Kris   +10 more
core  

Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy

Human Genome Variation
GNE myopathy is a rare autosomal recessive myopathy caused by biallelic pathogenic variants in GNE, which encodes an essential enzyme for sialic acid biosynthesis.
Nozomi Toide, Ryo Iwase, Mitsugu Yanagidaira, Sumihito Togi, Hiroki Ura, Makiko Egawa, Eriko Takamine, Hiroya Kuwahara, Sonoko Misawa, Masayuki Yoshida, Yo Niida, Taro Ishiguro   +11 more
doaj   +1 more source

A deep intronic splice variant in COL1A1 causing osteogenesis imperfecta type II [PDF]

Osteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen.
Santen, G.W.E., Schouw, M.E., Tuin, K. van der, Ruivenkamp, C.A.L., Nikkels, P.G.J., Koopmann, T.T.   +5 more
core   +5 more sources

Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity

Genetics in Medicine Open
Purpose: Clinical variant analysis pipelines likely have poor sensitivity to the effects on splicing from variants beyond 10 to 20 bases of exon-intron boundaries.
Owen R. Hirschi, Stephanie A. Felker, Surya P. Rednam, Kelly L. Vallance, D. Williams Parsons, Angshumoy Roy, Gregory M. Cooper, Sharon E. Plon   +7 more
doaj   +1 more source

In vitro analysis of the effects of intronic variants c.940+3_940+6del, c.941-3C>G, and c.2389+5G>A in the LDLR gene on pre-mRNA splicing using a minigene assay

Вавиловский журнал генетики и селекции
Familial hypercholesterolemia (FH) is an autosomal codominant disorder characterized by impaired clearance of low-density lipoproteins from the bloodstream, markedly elevated plasma total cholesterol and low density lipoprotein cholesterol levels, and ...
V. Yu. Danilchenko, D. E. Ivanoshchuk, O. V. Timoshchenko, E. A. Panina, P. S. Orlov, E. V. Shakhtshneider   +5 more
doaj   +1 more source