A new frameshift mutation in L1CAM producing X‐linked hydrocephalus
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1031
Abstract: X‐linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of L1CAM. It codes the protein L1 cell adhesion molecule (L1CAM), playing a crucial role in… read more here.
Keywords: linked hydrocephalus; l1cam; mutation l1cam; frameshift mutation ... See more keywords
A novel frameshift mutation of DVL1 ‐induced Robinow syndrome: A case report and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1886
Abstract: Robinow syndrome is a rare genetic disorder that affects the development of multiple systems. Due to its low prevalence and diversity of phenotypic presentation it has been challenging to definitively characterize features of Robinow syndrome. read more here.
Keywords: mutation dvl1; robinow syndrome; novel frameshift; dvl1 induced ... See more keywords
A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.897
Abstract: Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2His2 zinc finger transcription factor, is essential for the development of immune and neural systems. read more here.
Keywords: frameshift mutation; heterozygous frameshift; identified bcl11b; mutation identified ... See more keywords
Unexpected phenotype in a frameshift mutation of PTCH1
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.987
Abstract: Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, macrocephaly,… read more here.
Keywords: phenotype; ptch1; unexpected phenotype; mutation ptch1 ... See more keywords
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers
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DOI: 10.1007/s11033-019-04688-9
Abstract: NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a transcription factor encoded by DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) responsible for the development and maintenance of… read more here.
Keywords: age; hhg; age years; frameshift mutation ... See more keywords
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.04.006
Abstract: We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed in… read more here.
Keywords: isolated complex; atp6; complex deficiency; frameshift mutation ... See more keywords
Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104144
Abstract: BACKGROUND Mutations in NFKB1(nuclear factor of kappa light polypeptide gene enhancer in B-cells 1) are associated with a variety of clinical symptoms, including lymphadenopathy, splenomegaly, hepatomegaly, autoimmune haemolytic anaemia, arthralgia, recurrent respiratory tract infections and… read more here.
Keywords: necrotizing cellulitis; frameshift mutation; cellulitis; multi organ ... See more keywords
A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1710330
Abstract: De novo heterozygous mutations in the KAT6A gene give rise to a distinct intellectual disability syndrome, with features including speech delay, cardiac anomalies, craniofacial dysmorphisms, and craniosynostosis. Here, we reported a 16-year-old girl with a… read more here.
Keywords: mutation kat6a; kat6a associated; pancraniosynostosis; frameshift mutation ... See more keywords
A Novel Frameshift Mutation at Codon 2 (–T) (HBB: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan
Sign Up to like & getrecommendations! Published in 2019 at "Hemoglobin"
DOI: 10.1080/03630269.2019.1657886
Abstract: Abstract We identified a novel mutation of β-thalassemia (β-thal) in a heterozygous carrier from Azerbaijan. Phenotypical data and molecular mechanisms of codon 2 (–T) (HBB: c.9delT) was relevant to β0-thal. Additionally, we here report two… read more here.
Keywords: codon hbb; hbb 9delt; frameshift mutation; novel frameshift ... See more keywords
Probing the effect of a plus 1bp frameshift mutation in protein-DNA interface of domestication gene, NAMB1, in wheat
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Biomolecular Structure and Dynamics"
DOI: 10.1080/07391102.2019.1680435
Abstract: Abstract Transcription factor NAM-B1 has a major role in the process of senescence, which results in higher Fe and Zn concentrations in grains of wild wheat (T. durum; Td). The absence of the wild type… read more here.
Keywords: wheat; protein dna; gene; frameshift mutation ... See more keywords
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2028299
Abstract: ABSTRACT Background Uveal colobomata are eye defects that result from failure of the optic fissure of the neuroectoderm-derived optic cup to close between weeks 5–7 of fetal life. Mutations in YAP1 have previously been linked… read more here.
Keywords: uveal coloboma; mutation yap1; bilateral uveal; mutation ... See more keywords