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
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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
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Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients [PDF]
Molecular Genetics & Genomic MedicineBackground Ornithine transcarbamylase deficiency (OTCD, MIM#311250) is a rare X‐linked urea cycle disorder causing hyperammonemia. While around 600 pathogenic OTC variants have been reported, cryptic changes like synonymous or in‐frame variants remain ...
Qingming Wang +5 more
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When a Synonymous Variant Is Nonsynonymous [PDF]
Genes, 2022 Mauno Vihinen, Vihinen Mauno
exaly +2 more sources
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families [PDF]
Human Mutation, 2021 MIGUEL Barroso-Gil +2 more
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An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report [PDF]
American Journal of Medical Genetics, Part A, 2022 , Bristow Mr
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A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis [PDF]
Frontiers in GeneticsZhang Chenhui, Zheng Jianqiong
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Biology Open, 2021 Next-generation sequencing can quickly reveal genetic variation potentially linked to heritable disease. As databases encompassing human variation continue to expand, rare variants have been of high interest, since the frequency of a variant is expected ...
Cory D. Dunn
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Stem Cells International, 2021 Human induced pluripotent stem cells (hiPSCs) generated from patients and the derivative retinal cells enable the investigation of pathological and novel variants in relevant cell populations.
Benjamin M. Nash +12 more
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Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant
Frontiers in Oncology, 2022 Breast cancer gene 1 (BRCA1) and BRCA2 are tumor suppressors involved in DNA damage response and repair. Carriers of germline pathogenic or likely pathogenic variants in BRCA1 or BRCA2 have significantly increased lifetime risks of breast cancer, ovarian
Jun Li +23 more
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