A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24251
Abstract: 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. By candidate gene curation of WES data, combined… read more here.
Keywords: nphp3 explains; several families; nphp3; variant nphp3 ... See more keywords
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104182
Abstract: Disruption of the initiation of DNA replication is significantly associated with Meier-Gorlin syndrome (MGORS), an autosomal recessive condition of reduced growth, microtia and patellar a/hypoplasia. Biallelic mutations in CDC45, a member of the pre-initiation complex… read more here.
Keywords: craniosynostosis; cdc45; exon; meier gorlin ... See more keywords
A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase
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DOI: 10.1111/cge.14035
Abstract: To the Editor Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder caused by alterations in the CYP21A2 gene. CAH shows a strong genotype–phenotype correlation and, since most pathological… read more here.
Keywords: cyp21a2; variant; cah; site ... See more keywords
Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938)
Sign Up to like & getrecommendations! Published in 2019 at "Diabetes mellitus"
DOI: 10.14341/dm11358
Abstract: An erratum on A synonymous variant in GCK gene as a cause of gestational diabetes mellitus by Natalya A. Zubkova, Petr M. Rubtsov, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasiliev, Vasily M. Petrov,… read more here.
Keywords: gene cause; diabetes mellitus; erratum synonymous; gck gene ... See more keywords
Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2022.806977
Abstract: Background Sudden cardiac death (SCD), based on sudden cardiac ejection cessation, is an unexpected death. Primary cardiomyopathies, including dilated cardiomyopathy (DCM), are one of main causes of SCD. The DCM is characterized by a cardiac… read more here.
Keywords: cardiac death; case; sudden cardiac; synonymous variant ... See more keywords
When a Synonymous Variant Is Nonsynonymous
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13081485
Abstract: 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… read more here.
Keywords: synonymous variant; variant nonsynonymous;