Results 151 to 160 of about 537,790 (185)

CYP21A2 intronic variants causing 21-hydroxylase deficiency

Metabolism, 2017
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene.
Concolino, P, Rizza, R, Costella, A, Carrozza, C, Zuppi, C, Capoluongo, E.   +5 more
openaire   +3 more sources

Detecting pathogenic deep intronic variants in Gitelman syndrome

American Journal of Medical Genetics Part A, 2022
AbstractGitelman syndrome (GS) is a rare, autosomal recessive, salt‐losing tubulopathy caused by loss of function in the SLC12A3 gene (NM_000339.2), which encodes the natrium chloride cotransporter. The detection of homozygous or compound heterozygous SLC12A3 variants is expected in GS, but 18%–40% of patients with clinical GS carry only one mutant ...
Rini Rossanti, Tomoko Horinouchi, Nana Sakakibara, Tomohiko Yamamura, China Nagano, Shinya Ishiko, Yuya Aoto, Atsushi Kondo, Sadayuki Nagai, Hiroyuki Awano, Hiroaki Nagase, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu   +13 more
openaire   +2 more sources

A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome

American Journal of Medical Genetics, Part A
We 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
Alejandro Parra, Jair Tenorio-Castaño
exaly   +2 more sources

Sequence of a novel HLA‐A*0301 intronic variant (A*03010103)

Tissue Antigens, 2005
Abstract:  We report here the full‐length sequence of a novel HLA‐A*0301 allele, A*03010103, which differs from A*03010101 by a single nucleotide substitution (G>T) at position 492 within intron 2. The variant was originally identified by Reference Strand‐mediated Conformational Analysis (RSCA) and was confirmed by cloning and sequencing.
N P, Mayor, S T, Cox, A J, McWhinnie, J R, Argüello, B E, Shaw, A-M, Little, J A, Madrigal, S G E, Marsh   +7 more
openaire   +2 more sources

An intronic variant in the CELF4 gene is associated with risk for colorectal cancer

Cancer Epidemiology, 2021
Germline predisposition variants associated with colorectal cancer (CRC) have been identified but all are not yet identified. We sought to identify the responsible predisposition germline variant in an extended high-risk CRC pedigree that exhibited evidence of linkage to the 18q12.2 region (TLOD = +2.81).DNA from two distantly related carriers of the ...
Craig C. Teerlink, Jeff Stevens, Rolando Hernandez, Julio C. Facelli, Lisa A. Cannon-Albright   +4 more
openaire   +2 more sources

Genomic variants in exons and introns: identifying the splicing spoilers

Nature Reviews Genetics, 2004
When genome variants are identified in genomic DNA, especially during routine analysis of disease-associated genes, their functional implications might not be immediately evident. Distinguishing between a genomic variant that changes the phenotype and one that does not is a difficult task.
Franco, Pagani, Francisco E, Baralle
openaire   +2 more sources

Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia

The Journal of Molecular Diagnostics, 2023
Phenylalanine hydroxylase (PAH) deficiency or phenylketonuria (PKU) is the most common cause of hyperphenylalaninemia (HPA), and approximately 5% of patients remain genetically unsolved. Identifying deep intronic PAH variants may help improve their molecular diagnostic rate.
Xiaomei Luo, Ruifang Wang, Yu Sun, Wenjuan Qiu, Deyun Lu, Yu Wang, Zhuwen Gong, Huiwen Zhang, Lianshu Han, Lili Liang, Xuefan Gu, Yongguo Yu, Bing Xiao   +12 more
openaire   +2 more sources

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.

Clinical genetics, 2021
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system which may occur sporadically or segregate within families due to heterozygous variants in KRIT1/CCM1, MGC4607/CCM2 or PDCD10/CCM3. Intronic variants are not uncommon in familial CCM, but their clinical interpretation is often hampered by insufficient data ...
Fusco, Carmela, Nardella, Grazia, Petracca, Antonio, Ronchi, Dario, Paciello, Nicola, Di Giacomo, Marilena, Gambardella, Stefano, Lanfranconi, Silvia, Zampatti, Stefania, D'Agruma, Leonardo, Micale, Lucia, Castori, Marco   +11 more
openaire   +3 more sources

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 ...
openaire   +2 more sources

Characterization of intronic variants in BRCA1 and BRCA2

2012
Approximately 10% of American women develop breast cancer during their lifetimes. Of the cases of breast cancer, about 10% are attributed to a genetic trait; the remaining appear to be sporadic. Two genes involved in the genetic cases of breast cancer have been discovered in the last decade, BRCAl and BRCA2.
openaire   +1 more source