Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants

2021 ◽  
Author(s):  
Sevil Dorum ◽  
Hakan Erdoğan ◽  
Adem Yasin Köksoy ◽  
Ali Topak ◽  
Özlem Görükmez
Keyword(s):  
Clinical Features ◽  
Gene Variants ◽  
Slc5a2 Gene

scholarly journals Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Qun Li ◽  
Guoying Chang ◽  
Lei Yin ◽  
Juan Li ◽  
Xiaodong Huang ◽  
...  
Keyword(s):  
Clinical Features ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Genetic Variations ◽  
Chinese Children ◽  
Chinese Patients ◽  
Cornelia De Lange Syndrome ◽  
Gene Variants ◽  
Wide Range ◽  
Cornelia De Lange

AbstractCornelia de Lange Syndrome (CdLS) is a rare genetic disorder, which causes a range of physical, cognitive, and medical challenges. To retrospectively analyze the clinical characteristics and genetic variations of Chinese patients, and to provide experience for further diagnosis and treatment of CdLS in Chinese children, we identified 15 unrelated Chinese children who presented with unusual facial features, short stature, developmental delay, limb abnormalities, and a wide range of health conditions. In this study, targeted-next generation sequencing was used to screen for causal variants and the clinically relevant variants were subsequently verified using Sanger sequencing. DNA sequencing identified 15 genetic variations, including 11 NIPBL gene variants, two SMC1A gene variants, one RAD21 gene variant, and one HDAC8 variant. The phenotype of these patients was summarized and differences between this cohort and another four groups were compared. The clinical manifestations of the patients in this cohort were mostly consistent with other ethnicities, but several clinical features in our cohort had different frequencies compared with other groups. We identified 15 deleterious variants of which 11 were novel. Variants in the NIPBL gene were the most common cause in our cohort. Our study not only expands upon the spectrum of genetic variations in CdLS, but also broadens our understanding of the clinical features of CdLS.

FC06.03 Association of serotonin transporter promoter gene variants with clinical features of major depression

2000 ◽  
Vol 15 (S2) ◽  
pp. 261s-261s
Author(s):  
A. Putzhammer ◽  
P. Eichhammer ◽  
T. Rohrmeier ◽  
H. Sartor ◽  
L. Angermueller ◽  
...  
Keyword(s):  
Major Depression ◽  
Clinical Features ◽  
Serotonin Transporter ◽  
Gene Variants ◽  
Promoter Gene

Influence of ESR1 variants on clinical characteristics and fibromyalgia syndrome in Turkish women

2020 ◽  
Vol 20 ◽  
Author(s):  
Habibe Sema Arslan ◽  
Ayse Feyda Nursal ◽  
Ahmet Inanir ◽  
Nevin Karakus ◽  
Serbulent Yigit
Keyword(s):  
Clinical Features ◽  
Clinical Characteristics ◽  
Fibromyalgia Syndrome ◽  
Statistical Significance ◽  
Clinical Findings ◽  
Control Group ◽  
Gene Variants ◽  
Genotype Distribution ◽  
Turkish Women ◽  
Esr1 Gene

Background: Fibromyalgia syndrome (FMS) is characterized by widespread musculoskeletal pain. It is more common in women than in men, and sex hormones may play a role in this predominance. Therefore, this research investigated whether Estrogen-α (ESR1) gene variants are associated with FMS and clinical findings among Turkish females. Methods: A total of 219 individuals were enrolled in this study. ESR1 variants (PvuII/XbaI) were genotyped using PCRRFLP methods. The results of the analyses were evaluated for statistical significance. Results: There was a significant association between the ESR1 PvuII and FMS risk among Turkish women. The ESR1 PvuII CC genotype and C allele were higher in the patients than those in the controls (p=0.021, p=0.007, respectively). A more statistically significant association was observed between the patients and the controls in terms of TT genotype vs. TC+CC genotypes (p=0.022). Also, there was a statistically significant association between the patients and the controls in terms of TT+TC genotype vs. CC genotypes (p =0.028). There was no significant association between patients and the control group concerning the genotype distribution and allele frequencies of ESR1 XbaI (p>0.05). Headache was seen more frequently in the XbaI GA genotype (p=0.025), while XbaI AA genotype was associated with dysmenorrhea in patients with FMS (p=0.041). Conclusion: Our results indicate that ESR1 PvuII/XbaI variants are possibly effective in the development of FMS and some clinical features.

The Impact of Adverse Life Events on Clinical Features and Interaction with Gene Variants in Mood Disorder Patients

2013 ◽  
Vol 46 (6) ◽  
pp. 384-389 ◽  
Author(s):  
Alessandro Serretti ◽  
Daniel Souery ◽  
Niki Antypa ◽  
Raffaella Calati ◽  
Othman Sentissi ◽  
...  
Keyword(s):  
Mood Disorder ◽  
Life Events ◽  
Clinical Features ◽  
Gene Variants ◽  
Adverse Life Events ◽  
The Impact
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