Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum [PDF]
Annals of Clinical and Translational NeurologyApproximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant.
Wei Luo
exaly +3 more sources
Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders [PDF]
Molecular Genetics & Genomic MedicineBackground SYNGAP1 encodes a Ras/Rap GTPase‐activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been
Wuming Xie +5 more
exaly +3 more sources
A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report [PDF]
HeliyonMost pathogenic DMD variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable DMD variant after standard genetic testing, most ...
Zhiying Xie
exaly +4 more sources
Frontiers in Genetics, 2023 Background: Hereditary spherocytosis (HS) is a congenital haemolytic anaemia attributed to dysregulation or abnormal quantities of erythrocyte membrane proteins.
Aiguo Liu, Liu Aiguo
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An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene [PDF]
Annals of Clinical and Translational Neurology, 2023 The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy.
Chengyue Sun +4 more
doaj +2 more sources
Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia [PDF]
Frontiers in GeneticsBackgroundPrimary ciliary dyskinesia (PCD), a rare hereditary disorder characterized by impaired ciliary motility, is frequently linked to infertility. Elucidating PCD’s genetic basis is critical for accurate diagnosis and clinical management.
Yupeng Long +11 more
doaj +2 more sources
Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T [PDF]
Orphanet Journal of Rare DiseasesBackground The c.1199 + 502 A > T variant of the phenylalanine hydroxylase (PAH) gene, which is the most frequently reported deep intronic variant involved in phenylketonuria (PKU), is mainly observed in patients with classical or mild PKU. Prior to this
Chuan Zhang +8 more
doaj +2 more sources
Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome
Frontiers in Genetics, 2022 Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that canonically affects the ocular, skeletal, and cardiovascular system, in which aortic tear and rupture is the leading cause of death for MFS patients.
Fu-Tsuen Lee, Liqun Sun, Jinmiao Chen
exaly +3 more sources
An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl [PDF]
Molecular Genetics & Genomic MedicineIntroduction IMAGe syndrome, a rare disorder caused by maternally inherited CDKN1C pathogenic variants, is characterized by intrauterine growth retardation (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary abnormalities.
Setila Dalili +8 more
doaj +2 more sources
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) [PDF]
Molecular Genetics & Genomic MedicineBackground Distal arthrogryposis with impaired proprioception and touch (DAIPT) is a rare autosomal recessive neurological disease characterized by progressive alteration of mechanosensation.
Michela Bellardita +19 more
doaj +2 more sources