scholarly journals The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Victor Zanetti Drumond ◽  
Lucas Sousa Salgado ◽  
Camila Sousa Salgado ◽  
Vitor Augusto de Lima Oliveira ◽  
Eliene Magda de Assis ◽  
...  
Keyword(s):  
Systematic Review ◽  
Clinical Features ◽  
Clinical Manifestations ◽  
Rare Condition ◽  
Clinical Findings ◽  
Pathogenic Variant ◽  
Genitourinary Tract ◽  
Direct Relation ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Aarskog–Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.

Radiologic Manifestations of Malabsorption: A Nonspecific Finding

PEDIATRICS ◽  
1984 ◽  
Vol 74 (4) ◽  
pp. 530-533
Author(s):  
Zvi Weizman ◽  
David A. Stringer ◽  
Peter R. Dunrie
Keyword(s):  
Small Bowel ◽  
Clinical Features ◽  
Clinical Evidence ◽  
Clinical Manifestations ◽  
Growth Failure ◽  
Clinical Findings ◽  
Duodenal Biopsy ◽  
Radiologic Finding ◽  
Fecal Fat ◽  
Mucosal Folds

Children demonstrating a radiologic malabsorption pattern on small bowel follow-through study performed for other reasons are frequently subjected to intensive gastrointestinal investigations, even in the absence of clinical manifestations of malabsorption. To determine the usefulness of this radiologic finding, the clinical findings of all patients with the typical malabsorption pattern on small bowel follow-through examination were reviewed retrospectively. The presence of a malabsorption pattern was based on three radiologic criteria: flocculation and segmentation of barium, thickening of mucosal folds, and dilation of intestinal loops. Thirteen patients fulfilled the criteria for radiologic malabsorption pattern, but six (46%) had no clinical evidence of malabsorption, according to 3- to 5-day fecal fat analysis. In addition, five of these patients had normal mucosal histologic findings on duodenal biopsy. It was concluded that radiologic malabsorption pattern is a nonspecific finding, and in the absence of other clinical features suggestive of malabsorption or growth failure further investigations may not be justified.

scholarly journals Clinical Features and Molecular Analysis of Hb H Disease in Taiwan

2014 ◽  
Vol 2014 ◽  
pp. 1-5
Author(s):  
Yu-Hua Chao ◽  
Kang-Hsi Wu ◽  
Han-Ping Wu ◽  
Su-Ching Liu ◽  
Ching-Tien Peng ◽  
...  
Keyword(s):  
Clinical Features ◽  
Globin Gene ◽  
Clinical Manifestations ◽  
Clinical Severity ◽  
Blood Transfusions ◽  
Limited Data ◽  
Phenotype Correlation ◽  
Younger Age ◽  
Hb H Disease ◽  
Thalassemia Mutation

Thalassemia is highly prevalent in Taiwan, but limited data are available about the association between genotypes and clinical manifestations in Taiwanese patients with Hb H disease. Here, we studied α-globin gene abnormalities and clinical features in Taiwanese patients with Hb H disease. Of the 90 patients, sixty-four (71.1%) were deletional and twenty-six (28.9%) were nondeletional Hb H disease. The (- -SEA) type ofα0-thalassemia mutation was detected in the majority of patients (>95%). The most common genotype was (- -SEA/-α3.7), followed by (- -SEA/αcsα). After further investigation of the genotype-phenotype correlation in 68 patients, we found that patients with nondeletional Hb H disease had more severe clinical features than those with deletional Hb H disease, including younger age at diagnosis, more requirement of blood transfusions, and larger proportion of patients with splenomegaly, hepatomegaly or jaundice. This is probably a consequence of the lower hemoglobin levels and the higher Hb H levels. The clinical severity was highly variable even among patients with an identical genotype, and the diversity was much more profound among patients with (- -/αcsα) genotype. Therefore, predicting the phenotype directly from the genotype in Hb H disease remains relatively difficult in Taiwan.

Genotype Phenotype Correlation in Thalassemia Syndromes and Their Correlation with Xmn-1 Polymorphism.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 3845-3845
Author(s):  
Anupam Sachdeva ◽  
Aditya Raina ◽  
Varinder Kumar Khanna ◽  
Subhash Chander Arya ◽  
Satya Prakash Yadav ◽  
...  
Keyword(s):  
Blood Group ◽  
Genetic Diseases ◽  
Clinical Manifestations ◽  
Age At Diagnosis ◽  
Beta Thalassemia ◽  
Clinical Parameters ◽  
Phenotype Correlation ◽  
Inherited Disorders ◽  
Genotype Phenotype Correlation ◽  
High Degree

Abstract Among the inherited disorders of blood, thalassemia constitutes a major bulk of genetic diseases in India. It causes a high degree of morbidity. In a study conducted in India it has been estimated that there is a frequency of 1:2700 at the time of birth. Thus on an average 9000 new thalassemics are born every year in India.. The present study has been aimed at investigating the clinical and hematological spectrum in the above syndrome. It also assessed the prevalence of Xmn -1 polymorphism its relationship with various mutations and its role in modifying the clinical manifestations. The study was conducted on fifty patients representing 49 families and consisting of 33 males and 17 females who were homozygous for beta thalassemia and ranged in age from 3 months to 32 years. The patients were screened for common Indian mutations and their Xmn polymorphism status and this was correlated with their clinical parameters. Apositive correlation in presence of Xmn-1 polymorphism and IVS1-1 mutation was noted. There was also a correlation between age at diagnosis and also the age at first transfusion. There was a correlation between Xmn polymorphism and IVS1-1 mutation. This was found most commonly in the Punjabi Khatri community. None of the patients with blood group O had positivity of Xmn polymorphism. There was no correlation between Xmn and hemoglobin at diagnosis, HbF at diagnosis, MCV at diagnosis, amount of blood in mL/Kg/year and sex and religion.

Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review

2016 ◽  
Vol 170 (9) ◽  
pp. 2365-2371 ◽  
Author(s):  
Julia Bregand-White ◽  
Devereux N. Saller ◽  
Michele Clemens ◽  
Urvashi Surti ◽  
Svetlana A. Yatsenko ◽  
...  
Keyword(s):  
Systematic Review ◽  
Pregnancy Outcomes ◽  
Partial Trisomy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Tania Mayvel Espinosa Reyes ◽  
Teresa Collazo Mesa ◽  
Paulina Arasely Lantigua Cruz ◽  
Adriana Agramonte Machado ◽  
Emma Domínguez Alonso ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Point Mutations ◽  
Clinical Manifestations ◽  
Adrenal Hyperplasia ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Cyp21a2 Gene ◽  
Genotype Phenotype Correlation ◽  
21 Hydroxylase Deficiency ◽  
Cuban Population

Background. There are several studies that show a good genotype-phenotype correlation in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). However, there is well-documented evidence of inconsistency in some cases. Objectives. To determine if there is a correlation between the identified mutations and the clinical manifestations of 21OHD in the Cuban population. Methods. A cross-sectional descriptive study of all patients referred for a molecular diagnosis of 21OHD in Cuba from January 2000 to December 2018. The clinical manifestations of each patient were identified and classified according to the phenotype. The CYP21A2 gene was analyzed for the presence of 5 point mutations involved in the pathogenesis of 21OHD (intron 2, deletion of 8bp, I172N, P30L, and Q318X); correlation was sought between the phenotypic characteristics and the frequencies of point mutations in the patients using the Spearman test. Results. A total of 55 patients underwent direct analysis of the CYP21A2 gene in order to determine the presence of the 5 point mutations. Point mutations were identified in 31 patients, which corresponded to 56%. A statistically significant genotype-phenotype correlation was found. Conclusions. The correlation between the detected molecular defect and the clinical expression of 21OHD was reasonable in the Cuban population, which could allow phenotypic predictions to be made from the genotype.

scholarly journals Clinical Features,DYT1Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran

2012 ◽  
Vol 21 (5) ◽  
pp. 462-466 ◽  
Author(s):  
Mohammad Taghi Akbari ◽  
Zahra Zand ◽  
Gholam Ali Shahidi ◽  
Mohammad Hamid
Keyword(s):  
Clinical Features ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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