, 2021 Background and aims: Familial hypercholesterolemia (FH) is caused by pathogenic variants in LDLR, APOB, or PCSK9 genes (designated FH+). However, a significant number of clinical FH patients do not carry these variants (designated FH-).
Klaaijsen, Lisette N. +12 more
core +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 +24 more
openaire +6 more sources
, 2016 Snapshot of Alamut visual showing an intronic variant (c.439-17G>A) in patient 26007 (green rectangle). The bam alignment file clearly shows a heterozygous variant 17bp upstream from exon 6.
Amit Tiwari (436122) +8 more
core +1 more source
Alteration of introns in a hyaluronan synthase 1 (HAS1) minigene convert Pre-mRNA [corrected] splicing to the aberrant pattern in multiple myeloma (MM): MM patients harbor similar changes. [PDF]
PLoS ONE, 2013 Aberrant pre-mRNA splice variants of hyaluronan synthase 1 (HAS1) have been identified in malignant cells from cancer patients. Bioinformatic analysis suggests that intronic sequence changes can underlie aberrant splicing.
Jitra Kriangkum +3 more
doaj +1 more source
BMC Nephrology, 2017 Background Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap ...
Tomohiko Yamamura +15 more
doaj +1 more source
A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant. [PDF]
Hum Genome VarWe report a case of severe Aicardi–Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5.
Shibata Y +4 more
europepmc +2 more sources
AN INTRONIC VARIANT IN PTEN GENE IS PROBABLY INVOLVED IN SPLICING ALTERATION EVENTS.
, 2019 PTEN is a gate-keeper tumor-suppressor gene involved in various cell cycle pathways. Germline mutations of one allele of PTEN were found associated with Cowden syndrome, which is an inherited disease characterized by multiple hamartomas.
Carmela Rinaldi
core +1 more source
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies [PDF]
, 2008 Background: The commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable through direct sequencing.
McCauley, J +103 more
core +1 more source
In silico prioritization and further functional characterization of SPINK1 intronic variants [PDF]
Human Genomics, 2017 SPINK1 (serine protease inhibitor, kazal-type, 1), which encodes human pancreatic secretory trypsin inhibitor, is one of the most extensively studied genes underlying chronic pancreatitis. Recently, based upon data from qualitative reverse transcription-PCR (RT-PCR) analyses of transfected HEK293T cells, we concluded that 24 studied SPINK1 intronic ...
Zou, Wen-Bin +7 more
openaire +4 more sources
LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay
Molecular Genetics & Genomic Medicine, 2021 Background Both Pierson syndrome (PS) and isolated nephrotic syndrome can be caused by LAMB2 biallelic pathogenic variants. Only 15 causative splicing variants in the LAMB2 gene have been reported. However, the pathogenicity of most of these variants has
Xiaoyuan Wang +5 more
doaj +1 more source