A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1490
Abstract: Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia… read more here.
Keywords: splicing alteration; choroideremia; alteration; chm gene ... See more keywords
A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70058
Abstract: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability. read more here.
Keywords: cornelia lange; novo frameshift; variant smc1a; lange syndrome ... See more keywords
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure
Sign Up to like & getrecommendations! Published in 2020 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2002857117
Abstract: Significance Bone marrow failure (BMF) syndromes are inherited life-threatening conditions characterized by low blood cell production and predisposition to cancer. In this study we report a germ line frameshift variant in the Sp1 transcription factor… read more here.
Keywords: transcription; superactivation sp1; frameshift variant; sp1 ... See more keywords
A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker–Young–Simpson syndrome phenotype
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000376
Abstract: Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon and Department of Pediatric Endocrinology, Erzurum City Hospital, Erzurum, Turkey Correspondence to Ayberk Turkyilmaz, MD, Department of Medical Genetics, Karadeniz Technical University Faculty of… read more here.
Keywords: medicine; proximal exon; frameshift variant; genetics ... See more keywords
Assessment of a glyoxalase I frameshift variant, p.P122fs, in Japanese patients with schizophrenia
Sign Up to like & getrecommendations! Published in 2018 at "Psychiatric Genetics"
DOI: 10.1097/ypg.0000000000000204
Abstract: Enhanced carbonyl stress has been observed in a subgroup of patients with schizophrenia. Glyoxalase I, which is encoded by GLO1, is an enzyme that protects against carbonyl stress. In this study, we focused on the… read more here.
Keywords: glyoxalase; patients schizophrenia; variant p122fs; glo1 ... See more keywords
Identification of a Novel NF1 Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1
Sign Up to like & getrecommendations! Published in 2019 at "BioMed Research International"
DOI: 10.1155/2019/2721357
Abstract: Neurofibromatosis type 1 (NF1) is a progressive neurocutaneous disorder in humans, mainly characterized by café-au-lait macules (CALMs) and neurofibromas. NF1 is caused by variants of the neurofibromin 1 gene (NF1), which encodes a Ras-GTPase-activating protein… read more here.
Keywords: chinese family; variant; family; neurofibromatosis type ... See more keywords
A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family.
Sign Up to like & getrecommendations! Published in 2025 at "Genetic testing and molecular biomarkers"
DOI: 10.1177/19450265251401002
Abstract: Background: Familial exudative vitreoretinopathy (FEVR) is a rare inherited ocular disorder characterized by abnormal peripheral retinal vascular development. KIF11 variants are known to cause autosomal dominant FEVR, but novel pathogenic variants remain to be identified.… read more here.
Keywords: fevr; variant; frameshift variant; chinese family ... See more keywords
A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs
Sign Up to like & getrecommendations! Published in 2017 at "BMC Genomics"
DOI: 10.1186/s12864-017-4081-z
Abstract: BackgroundMany inherited polyneuropathies (PN) observed in dogs have clinical similarities to the genetically heterogeneous group of Charcot-Marie-Tooth (CMT) peripheral neuropathies in humans. The canine disorders collectively show a variable expression of progressive clinical signs and… read more here.
Keywords: gja9 frameshift; leonberger dogs; variant; variant associated ... See more keywords
Autosomal recessive non-syndromic keratoconus: Homozygous frameshift variant in the candidate novel gene GALNT14.
Sign Up to like & getrecommendations! Published in 2019 at "Current molecular medicine"
DOI: 10.2174/1566524019666190730095630
Abstract: Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical. Despite the strong evidence of genetic contribution in KC, the etiology of KC is not understood in… read more here.
Keywords: gene galnt14; frameshift variant; homozygous frameshift; gene ... See more keywords
Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2023.1119900
Abstract: Serrated polyposis syndrome (SPS) is one of the most frequent polyposis syndromes characterized by an increased risk for developing colorectal cancer (CRC). Although SPS etiology has been mainly associated with environmental factors, germline predisposition to… read more here.
Keywords: frameshift; pold1; serrated polyposis; frameshift variant ... See more keywords
Unraveling the pathogenic mechanism of a novel filamin a frameshift variant in periventricular nodular heterotopia
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2024.1429177
Abstract: Background Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder caused by the inability of neurons to move to the cortex. Patients with PVNH often experience epilepsy due to ectopic neuronal discharges. Most cases of… read more here.
Keywords: analysis; frameshift variant; frameshift; periventricular nodular ... See more keywords