Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration

2014 ◽  
Vol 87 (1) ◽  
pp. 93-95 ◽  
Author(s):  
L.-Y. Ma ◽  
L. Wang ◽  
Y.-M. Yang ◽  
Y. Lu ◽  
F.-B. Cheng ◽  
...  
Keyword(s):  
Clinical Features ◽  
Gene Mutations ◽  
Pantothenate Kinase ◽  
Novel Gene

Evaluation of the Clinical Features Accompanied by the Gene Mutations

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Isil E. Eryilmaz ◽  
Mustafa Bakar ◽  
Unal Egeli ◽  
Gulsah Cecener ◽  
Beste Yurdacan ◽  
...  
Keyword(s):  
Clinical Features ◽  
Gene Mutations

P5.38 Clinical features of autosomal dominant ophthalmoplegia related to PEO1 gene mutations

2011 ◽  
Vol 21 (9-10) ◽  
pp. 735
Author(s):  
G.F. Polara ◽  
A. Behin ◽  
T. Stojkovic ◽  
M. Gilleron ◽  
C. Jardel ◽  
...  
Keyword(s):  
Clinical Features ◽  
Autosomal Dominant ◽  
Gene Mutations

scholarly journals Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Gang Pan ◽  
Linmei Zhang ◽  
Shuizhen Zhou
Keyword(s):  
Clinical Features ◽  
Transmembrane Protein ◽  
Mutation Screening ◽  
Venous Blood ◽  
Gene Mutations ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Starting Dose ◽  
Dyskinetic Movement ◽  
Effective Doses ◽  
Polymerase Chain

Abstract Background The objective of this study was to summarize clinical features and PRRT2 mutations of paediatric paroxysmal kinesigenic dyskinesia (PKD) patients and observe the tolerability and effects of morning draughts of oxcarbazepine. Methods Twenty patients diagnosed with PKD at Children’s Hospital of Fudan University between January 2011 and December 2015 were enrolled. These patients’ medical records were reviewed. Peripheral venous blood was obtained from all enrolled patients, and polymerase chain reaction (PCR) and Sanger sequencing were used to sequence proline-rich transmembrane protein 2 (PRRT2) gene mutations. Clinical features of PKD patients with and without PRRT2 mutations were compared. All enrolled patients were treated with morning draughts of oxcarbazepine (OXC). The starting dose was 5 mg/kg·d, and the dose was increased by 5 mg/kg·d each week until attacks stopped. Effective doses and adverse effects were recorded. Results For all enrolled patients, dyskinesia was triggered by sudden movement. Dyskinetic movement usually involved the limbs and was bilateral; the majority of enrolled patients exhibited both dystonia and choreoathetosis. We identified PRRT2 mutations in 5 patients, including 4 familial patients and 1 sporadic patient. All 20 patients took low doses of OXC (5–20 mg/kg·d) as draughts in the morning, and dyskinesia attacks stopped in 19 patients. Conclusions Paediatric PKD patients have various phenotypes. PRRT2 mutations are common in familial cases. OXC taken as morning draughts can be a treatment option for paediatric PKD patients.

scholarly journals Novel Gene Mutations in Patients with 1α-Hydroxylase Deficiency That Confer Partial Enzyme Activityin Vitro

2002 ◽  
Vol 87 (6) ◽  
pp. 2424-2430 ◽  
Author(s):  
Xuemei Wang ◽  
Martin Y. H. Zhang ◽  
Walter L. Miller ◽  
Anthony A. Portale
Keyword(s):  
Gene Mutations ◽  
Hydroxylase Deficiency ◽  
Novel Gene

Hemochromatois-Associated Gene Mutations in Patients with Myelodysplastic Syndromes with Refractory Anemia and Ringed Sideroblasts.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 1541-1541
Author(s):  
Zachary P. Nearman ◽  
Bianca Serio ◽  
Hadrian Szpurka ◽  
Ilka Warshawsky ◽  
Alan Lichtin ◽  
...  
Keyword(s):  
Clinical Features ◽  
Myelodysplastic Syndromes ◽  
Phenotypic Variability ◽  
Gene Mutations ◽  
Differential Susceptibility ◽  
Control Population ◽  
Refractory Anemia ◽  
Hfe Gene ◽  
Jak2 Mutation ◽  
Ringed Sideroblasts

Abstract Complex interaction between a multitude of genetic variants may be responsible for differential susceptibility to specific diseases, and be responsible for phenotypic variability and heterogeneity of clinical presentations. Such a variability in clinical features confounded for many years investigations into the pathogenesis of myelodysplastic syndromes (MDS). We made a curious observation of increased ferritin levels in some newly diagnosed patients with MDS RARS (refractory anemia with ringed sideroblasts) in whom transfusional iron-overload was unlikely due to very low transfusion burden. Hence, we hypothesized that RARS patients may harbor hemochromatosis-related mutations, which could contribute to the pathophysiology of this particular subset of MDS. We studied a cohort of 109 MDS patients; 42 with RARS, and 67 with other forms of MDS (18 RA, 12 RAEB, 7 RAEB-T, 1 CMML, and 29 MDS/MPD overlap). All patients were genotyped using restriction fragment length polymorphism (RFLP) method, designed to detect presence of C282Y and H63D mutations of the HFE gene. We found significantly higher frequency of heterozygozity for the C282Y mutation in 21% of RARS patients (vs 9% in control population, n=2016, p= 0.017) while H63D genotype was not increased. The possible pathogenic role of this finding in RARS was supported by the normal distribution of mutant HFE alleles in patients with other forms of MDS (5% vs. 9%, p =0.35). Interestingly, 3/7 patients with RA not fulfilling the RARS criteria, but having increased numbers of ringed sideroblasts (<15%) also showed heterozygozity for either C282Y or H63D allele. To correlate the presence of C282Y allele with clinical features of RARS patients, we have performed a subset analysis. Within this group we have included patients with a rather nebulous and rare form of MDS, provisionally subclassified by WHO as RARS with thrombocytosis (RARSt); 7 of these patients (n=10) were found to have either C282Y or H63D allele resulting in a frequency of 30% and 40% of C282Y or H63D allele, respectively. The combined prevalence of either of these alleles in the control population is 33% (vs. 70% in RARSt, p=.01). Previously, we have demonstrated that RARSt patients are characterized by a high prevalence of the V617F JAK2 mutation (Szpurka et al, Blood 2006) suggestive of the pathophysiologic derivation of this syndrome from MPD rather than MDS. Consequently, we have tested the frequency of HFE gene variants associated with hemochromatosis in patients with MPD and Jak2 mutations. Of note is that patients with RARS harbored more C282Y alleles than those with other forms of MDS or MPD with Jak2 mutation (except for those with RARSt; (21% vs 5% and 3%, p =0.036 and .012, respectively). We conclude that hemochromatosis associated mutations may contribute to the pathogenesis of RARS. In patients with MPD and Jak2 mutation, concomitant presence of hemachromatosis-predisposing HFE variants may result in the unusual presentation associated with ringed sideroblasts.

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