A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families [PDF]
Human Mutation, 2021 Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved variant filtering and annotation.
Miguel Barroso-Gil +2 more
exaly +9 more sources
When a Synonymous Variant Is Nonsynonymous [PDF]
Genes, 2022 Term synonymous variation is widely used, but frequently in a wrong or misleading meaning and context. Twenty three point eight % of possible nucleotide substitution types in the universal genetic code are for synonymous amino acid changes, but when ...
Mauno Vihinen
exaly +3 more sources
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus
Human Genome VariationWe report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene.
Ivan Šubrt +6 more
doaj +2 more sources
A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family [PDF]
Bone Reports, 2021 Introduction: Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) (Inactivating PTH/PTHrP Signaling Disorders type 2, IPPSD2) are two rare autosomal disorders caused by loss-of-function mutations on either maternal or ...
Andreea Apetrei +8 more
doaj +2 more sources
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report [PDF]
Frontiers in Pediatrics, 2020 Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder characterized by a wide range of clinical features, including muscle weakness, hypoglycemia, metabolic acidosis, and multisystem dysfunctions.
Guorui Hu +6 more
doaj +2 more sources
Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report [PDF]
Molecular Genetics & Genomic MedicineBackground Synonymous variants are non‐pathogenic due to non‐substitution of amino acids. However, synonymous exonic terminal nucleotide substitutions may affect splicing.
Liya Wang +8 more
doaj +2 more sources
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing [PDF]
Molecular Genetics & Genomic Medicine, 2022 Background Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood‐onset progressive dystonia.
Bianca R. Grosz +13 more
doaj +3 more sources
Frontiers in Immunology, 2016 Reported synonymous substitutions are generally non-pathogenic and rare pathogenic synonymous variants may be disregarded unless there is a high index of suspicion.
FERNANDO GALLEGO-BUSTOS +10 more
doaj +2 more sources
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report [PDF]
American Journal of Medical Genetics, Part A, 2022 Francisco E Baralle, Michael R Bristow
exaly +2 more sources
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. [PDF]
Eur J Hum Genet, 2021 Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identified ...
Hirsch Y +27 more
europepmc +2 more sources