Search
Search Results
-
Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones. In this case report, we describe a patient who suffered from...
-
Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction
Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy that results in progressive, bilateral visual acuity loss and field defects. OPA1...
-
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
Mutations in ADNP result in Helsmoortel–Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor...
-
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry
Splice-site variants in cardiac genes may predispose carriers to potentially lethal arrhythmias. To investigate, we screened 1315 probands and...
-
A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1...
-
A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by arachnodactyly, multiple joint contractures,...
-
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders
The search for causative mutations in human genetic disorders has mainly focused on mutations that disrupt coding regions or splice sites. Recently,...
-
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one...
-
Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue
A recent report described a nonsense variant simultaneously creating a donor splice site, resulting in a truncated but functional protein. To explore...
-
Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain
Interleukin 2 receptor alpha chain (IL-2Rα or CD25) deficiency (OMIM #606367) is an immune dysregulation disorder segregating in autosomal recessive...
-
Atypical Sotos syndrome caused by a novel splice site variant
Sotos syndrome is usually caused by haploinsufficiency of NSD1 ; it is characterized by overgrowth, craniofacial features, and learning disabilities....
-
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
Dilated cardiomyopathy (DCM) is characterized by cardiac enlargement and impaired ventricular contractility leading to heart failure. A single report...
-
A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
BackgroundThis report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs...
-
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family
BackgroundThe most frequent clinical presentation of autosomal dominant nonsyndromic hearing loss (ADNSHL) is bilateral, symmetrical, postlingual...
-
-
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms
Intellectual disability (ID) is associated with an increased risk of developing psychiatric disorders, suggesting a common underlying genetic factor....
-
Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes
BackgroundNucleotide mutations in the ABO gene may reduce the activity of glycosyltransferase, resulting in lower levels of A or B antigen...
-
Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases
The last decade (2013–2023) has seen unprecedented successes in the clinical translation of therapeutic antisense oligonucleotides (ASOs). Eight such...
-
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether...
-
Meta-analysis of Osteopontin splice variants in cancer
BackgroundThe cytokine Osteopontin is a mediator of tumor progression and cancer metastasis. In 2006, we reported that (in addition to the...
