scholarly journals Comment on “A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome”

2021 ◽  
Author(s):  
Ruth Helen Walker ◽  
Robert Alexander Hegele ◽  
Adrian Danek
Keyword(s):  
Allelic Variant

Allelic variant frequency of the promotor CRYG gene in patients with initial and immature cataract

2014 ◽  
Vol 51 (5) ◽  
pp. 20-23
Author(s):  
S. Rykov ◽  
◽  
Y Byts ◽  
S. Goncharov ◽  
V. Dosenko ◽  
...  
Keyword(s):  
Allelic Variant ◽  
Variant Frequency

Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism

2020 ◽  
Vol 33 (6) ◽  
pp. 691-701 ◽  
Author(s):  
Tatsushi Tanaka ◽  
Kohei Aoyama ◽  
Atsushi Suzuki ◽  
Shinji Saitoh ◽  
Haruo Mizuno
Keyword(s):  
Congenital Hypothyroidism ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Japanese Patients ◽  
Thyroid Stimulating Hormone ◽  
Allelic Variant ◽  
Genetic Investigation ◽  
Pathogenic Variants ◽  
Recessive Genes ◽  
Molecular Genetic Diagnosis

AbstractObjectivesCongenital hypothyroidism (CH) is the most common congenital endocrine disorder. Recent advances in genetic testing have revealed its causative mutations in some CH patients. However, the underlying etiology remains unknown in most patients. This study aimed to perform clinical and genetic investigation in Japanese CH patients to uncover genotype-phenotype correlations.MethodsWe enrolled 136 Japanese patients with transient or permanent CH between April 2015 and March 2017, and performed next-generation sequencing of 19 genes implicated in CH.ResultsWe identified potentially pathogenic bi-allelic variants in DUOX2, TSHR, and TPO in 19, 5, and 1 patient, respectively (autosomal recessive), and a potentially pathogenic mono-allelic variant in NKX2-1 (autosomal dominant) in 1 patient. Molecular genetic diagnosis was highly suggested in 26 patients (19%) from 23 families. We also detected a potentially pathogenic mono-allelic variant in five recessive genes (DUOX2, TSHR, TG, DUOXA2, and TPO) in 31 unrelated patients (23%), although the pathogenicity of these variants remains inconclusive. Patients with bi-allelic DUOX2 variants showed a more severe clinical presentation in infancy than those with bi-allelic TSHR variants. However, this trend reversed beyond infancy. There were no statistical differences in initial thyroid stimulating hormone, free thyroxine, thyroglobulin, and levothyroxine dose as of March 2017 between patients with bi-allelic and mono-allelic DUOX2 variants.ConclusionsThe prevalence of potentially-pathogenic variants in Japanese CH patients was similar to that found by previous reports. Our study demonstrates a genotype-phenotype correlation in Japanese CH patients.

Effect of the Allelic Variant of Alcohol DehydrogenaseADH1B*2on Ethanol Metabolism

2014 ◽  
Vol 38 (6) ◽  
pp. 1502-1509 ◽  
Author(s):  
Gaeun Kang ◽  
Kyung-Yeol Bae ◽  
Sung-Wan Kim ◽  
Jin Kim ◽  
Hee-Young Shin ◽  
...  
Keyword(s):  
Allelic Variant ◽  
Ethanol Metabolism

scholarly journals New Autoantibody Specificities in Systemic Sclerosis and Very Early Systemic Sclerosis

Antibodies ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 12
Author(s):  
Roberto Lande ◽  
Raffaella Palazzo ◽  
Anna Mennella ◽  
Immacolata Pietraforte ◽  
Marius Cadar ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Early Diagnosis ◽  
Antibody Response ◽  
Allelic Variant ◽  
The Other ◽  
Autoantibody Response ◽  
Autoimmune Condition ◽  
Early Systemic Sclerosis ◽  
Systemic Sclerosis Patient

Chemokine (C-X-C motif) ligand 4 (CXCL4) is a biomarker of unfavorable prognosis in Systemic Sclerosis (SSc), a potentially severe autoimmune condition, characterized by vasculitis, fibrosis and interferon (IFN)-I-signature. We recently reported that autoantibodies to CXCL4 circulate in SSc patients and correlate with IFN-α. Here, we used shorter versions of CXCL4 and CXCL4-L1, the CXCL4 non-allelic variant, to search for autoantibodies exclusively reacting to one or the other CXCL4 form. Moreover, to address whether anti-CXCL4/CXCL4-L1 antibodies were present before SSc onset and predicted SSc-progression, we longitudinally studied two VEDOSS (Very Early Diagnosis of Systemic Sclerosis) patient cohorts, separating SSc-progressors from SSc-non-progressors. We found that anti-CXCL4-specific autoantibodies were present in both SSc and VEDOSS patients (both SSc-progressors and SSc-non-progressors). Anti-CXCL4-L1-specific autoantibodies were especially detected in long-standing SSc (lsSSc). Anti-CXCL4/CXCL4-L1 antibodies correlated with IFN-α and with specific SSc-skin features but only in lsSSc and not in early SSc (eaSSc) or VEDOSS. Thus, a broader antibody response, with reactivity spreading to CXCL4-L1, is characteristic of lsSSc. The early anti-CXCL4 autoantibody response seems qualitatively different from, and likely less pathogenic than, that observed in advanced SSc. Lastly, we confirm that anti-CXCL4 autoantibodies are SSc-biomarkers and uncover that also CXCL4-L1 becomes an autoantigen in lsSSc.

Identification and Functional Assessment of a New CYP2C9 Allelic Variant CYP2C9*59

2015 ◽  
Vol 43 (8) ◽  
pp. 1246-1249 ◽  
Author(s):  
Da-Peng Dai ◽  
Shuang-Hu Wang ◽  
Chuan-Bao Li ◽  
Pei-Wu Geng ◽  
Jie Cai ◽  
...  
Keyword(s):  
Functional Assessment ◽  
Allelic Variant

New allelic variant of triosephosphate isomerase found in cultured tumor cells of human prostate

2011 ◽  
Vol 26 (1) ◽  
pp. 14-20
Author(s):  
L. I. Kovalev ◽  
A. A. Makarov ◽  
E. A. Cherkashin ◽  
J. Dulinska ◽  
M. A. Kovaleva ◽  
...  
Keyword(s):  
Tumor Cells ◽  
Triosephosphate Isomerase ◽  
Allelic Variant ◽  
Human Prostate ◽  
Cultured Tumor Cells

A new allelic variant in the bovine prion protein gene (PRNP) coding region

1999 ◽  
Vol 30 (5) ◽  
pp. 386-387 ◽  
Author(s):  
J Schläpfer ◽  
N Saitbekova ◽  
C Gaillard ◽  
G Dolf
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Allelic Variant ◽  
Prion Protein Gene ◽  
Coding Region

scholarly journals Allelic variant in SLC6A3 rs393795 affects cerebral regional homogeneity and gait dysfunction in patients with Parkinson’s disease

PeerJ ◽  
2019 ◽  
Vol 7 ◽  
pp. e7957
Author(s):  
Lina Wang ◽  
Yongsheng Yuan ◽  
Jianwei Wang ◽  
Yuting Shen ◽  
Yan Zhi ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Allelic Variation ◽  
Inferior Frontal Gyrus ◽  
Freezing Of Gait ◽  
Clinical Manifestations ◽  
Regional Homogeneity ◽  
Allelic Variant ◽  
Analysis Of Covariance ◽  
Link Type

Aims We sought to explore the role of the SLC6A3 rs393795 allelic variant in cerebral spontaneous activity and clinical features in Parkinson’s disease (PD) via imaging genetic approach. Methods Our study recruited 50 PD and 45 healthy control (HC) participants to provide clinical, genetic, and resting state functional magnetic resonance imaging (rs-fMRI) data. All subjects were separated into 16 PD-AA, 34 PD-CA/CC, 14 HC-AA, and 31 HC-CA/CC four subgroups according to SLC6A3 rs393795 genotyping. Afterwards, main effects and interactions of groups (PD versus HC) and genotypes (AA versus CA/CC) on cerebral function reflected by regional homogeneity (ReHo) were explored using two-way analysis of covariance (ANCOVA) after controlling age and gender. Finally, Spearman’ s correlations were employed to investigate the relationships between significantly interactive brain regions and clinical manifestations in PD subgroups. Results Compared with HC subjects, PD patients exhibited increased ReHo signals in left middle temporal gyrus and decreased ReHo signals in left pallidum. Compared with CA/CC carriers, AA genotype individuals showed abnormal increased ReHo signals in right inferior frontal gyrus (IFG) and supplementary motor area (SMA). Moreover, significant interactions (affected by both disease factor and allelic variation) were detected in right inferior temporal gyrus (ITG). Furthermore, aberrant increased ReHo signals in right ITG were observed in PD-AA in comparison with PD-CA/CC. Notably, ReHo values in right ITG were negatively associated with Tinetti Mobility Test (TMT) gait subscale scores and positively related to Freezing of Gait Questionnaire (FOG-Q) scores in PD-AA subgroup. Conclusions Our findings suggested that SLC6A3 rs393795 allelic variation might have a trend to aggravate the severity of gait disorders in PD patients by altering right SMA and IFG function, and ultimately result in compensatory activation of right ITG. It could provide us with a new perspective for exploring deeply genetic mechanisms of gait disturbances in PD.

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