A Molecular Study of HNF - 1alpha Gene Mutations in MODY3 Egyptian Patients = دراسة جزيئية لطفرات الجين HNF - 1alpha في حالات مصريين مصابين بالداء السكري المبكر (MODY3)

2016 ◽  
Vol 66 ◽  
pp. 11-26
Author(s):  
Monir A. El-Ganzuri ◽  
Osama K. Zaki ◽  
Heba S. A. El-Abd
Keyword(s):  
Gene Mutations ◽  
Molecular Study ◽  
Egyptian Patients

scholarly journals First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations

2021 ◽  
pp. 1-10
Author(s):  
Manal M. Thomas ◽  
Engy A. Ashaat ◽  
Ghada A. Otaify ◽  
Samira Ismail ◽  
Mona L. Essawi ◽  
...  
Keyword(s):  
Short Stature ◽  
Phenotypic Variability ◽  
Gene Mutations ◽  
Molecular Study ◽  
Phenotypic Spectrum ◽  
Desbuquois Dysplasia ◽  
Whole Exome ◽  
Egyptian Patients ◽  
Characteristic Features

Desbuquois dysplasia type 1 (DBQD1) is a very rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a characteristic radiological monkey wrench appearance at the proximal femur. We report on 2unrelated Egyptian patients having the characteristic features of DBQD1 with different expressivity. Patient 1 presented at the age of 45 days with respiratory distress, short limbs, faltering growth, and distinctive facies while patient 2 presented at 5 years of age with short stature and hypospadias. The 2 patients shared radiological features suggestive of DBQD1. Whole-exome sequencing revealed a homozygous frameshift mutation in the <i>CANT1</i> gene (NM_001159772.1:c.277_278delCT; p.Leu93ValfsTer89) in patient 1 and a homozygous missense mutation (NM_138793.4:c.898C&#x3e;T; p.Arg300Cys) in patient 2. Phenotypic variability and variable expressivity of DBQD was evident in our patients. Hypoplastic scrotum and hypospadias were additional unreported associated findings, thus expanding the phenotypic spectrum of the disorder. We reviewed the main features of skeletal dysplasias exhibiting similar radiological manifestations for differential diagnosis. We suggest that the variable severity in both patients could be due to the nature of the <i>CANT1</i> gene mutations which necessitates the molecular study of more cases for phenotype-genotype correlations.

Lipoid proteinosis: A clinical and molecular study in Egyptian patients

Gene ◽  
2017 ◽  
Vol 628 ◽  
pp. 308-314 ◽  
Author(s):  
Hanan H. Afifi ◽  
Khalda S. Amr ◽  
Angie M.S. Tosson ◽  
Tarak A. Hassan ◽  
Mennat I. Mehrez ◽  
...  
Keyword(s):  
Molecular Study ◽  
Lipoid Proteinosis ◽  
Egyptian Patients

PO19-WE-15 Molecular study of ATP7B gene mutations in Thai patients with Wilson disease

2009 ◽  
Vol 285 ◽  
pp. S269
Author(s):  
K. Taweechue ◽  
B. Panichareon ◽  
W. Thongnoppakhun ◽  
P. Yenchitsomanus ◽  
C. Limwongse
Keyword(s):  
Wilson Disease ◽  
Gene Mutations ◽  
Molecular Study ◽  
Atp7b Gene

MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever

2010 ◽  
Vol 14 (2) ◽  
pp. 263-268 ◽  
Author(s):  
Dalal A. El Gezery ◽  
Abla A. Abou-Zeid ◽  
Doaa I. Hashad ◽  
Hesham K. El-Sayegh
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Egyptian Patients ◽  
Mediterranean Fever

scholarly journals Molecular study of Helicobacter pylori virulence genes CagA, Hpa and BabA2 in Egyptian patients

2018 ◽  
Vol 19 (4) ◽  
pp. 274
Author(s):  
M.E.S. Zaki ◽  
M.A. Rizk ◽  
A.O. Bakr ◽  
Mahmoud Mahmoud ◽  
M.A. Ali ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Virulence Genes ◽  
Molecular Study ◽  
Egyptian Patients

scholarly journals Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Amal R. Mansour ◽  
Ayman El-Shayeb ◽  
Nihal El Habachi ◽  
Mohamad A. Khodair ◽  
Doaa Elwazzan ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Signs And Symptoms ◽  
High Serum ◽  
Compound Heterozygous ◽  
Amyloid A ◽  
Egyptian Patients ◽  
Sequencing Studies ◽  
Mediterranean Fever

Background. Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive disease which is mainly seen in the Turks, Armenians, Arabs, and Jews. It is characterized by recurrent episodes of fever, polyserositis, and rash. MEFV gene, encoding pyrin protein, is located on the short arm of chromosome 16. FMF is associated with a broad mutational spectrum in this gene. Certain mutations are more common in particular ethnic groups. To date, different mutations of MEFV were observed in studies carried out in different regions worldwide. However, most of these studies did not extensively investigate the Egyptian population, in spite of the high prevalence of FMF in this geographical region. Aim. To identify the frequency of MEFV gene mutations among the patients who presented with FMF like symptoms and, to characterize the different genetic mutations and their association with increased Amyloid A among Egyptian patients. Methods. FMF Strip Assay (Vienna Lab Diagnostics, Vienna, Austria) was used. This test is based on reverse hybridization of biotinylated PCR products on immobilized oligonucleotides for mutations and controls in a parallel array of allele-specific oligonucleotides. Results. Among the 1387 patients presenting with signs and symptoms suggestive of FMF, 793 (57.2%) were of undefined mutations, whereas 594 had MEFV gene mutations. 363 patients (26.2%) were heterozygous mutants, 175 patients (12.6%) were compound heterozygous mutants, and 56 patients (4%) were homozygous mutants. The most commonly encountered gene mutations in heterozygous and homozygous groups were E148Q (38.6%), M694I (18.1%), and V726A (15.8%). The most commonly encountered gene mutations in the compound heterozygous groups were E148Q+M694I observed in 20.6% of the patients, followed by M694I+V726A and M6801+V726A found in 18.9% and 11.4 %, respectively. The most commonly encountered gene mutation associated with abdominal pain, fever, and high serum Amyloid A was E148Q allele (37.5%). Conclusions. Unlike all previous publications, E148Q allele was found to be the most frequent in the studied patients. Moreover, this allele was associated with increased Amyloid A. 793 patients were free of the 12 studied Mediterranean mutations, which implies the necessity to perform future sequencing studies to reveal other mutations.

scholarly journals Study of P53 Gene Mutations as a New Early Diagnostic Markers of Hepatocellular Carcinoma in Egyptian Patients

2018 ◽  
Vol 2 (1) ◽  
pp. 21-29
Author(s):  
Amal Helmy Abd Elhameed ◽  
AM Abo-Elenein ◽  
WS Ibrahim ◽  
GM El-kassas ◽  
MA Noweir
Keyword(s):  
Hepatocellular Carcinoma ◽  
Gene Mutations ◽  
P53 Gene ◽  
Diagnostic Markers ◽  
Egyptian Patients ◽  
P53 Gene Mutations ◽  
Early Diagnostic

Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis with Cooccurrent SF3B1 and MPL Gene Mutations: A Case Report and Brief Review of the Literature

2019 ◽  
Vol 51 (3) ◽  
pp. 315-319
Author(s):  
Chang-Hun Park ◽  
Jae Won Yun ◽  
Hyun-Young Kim ◽  
Ki-O Lee ◽  
Sun-Hee Kim ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Rare Case ◽  
Macrocytic Anemia ◽  
Myeloproliferative Neoplasm ◽  
Gene Mutations ◽  
Jak2 V617f ◽  
Molecular Study ◽  
Recurrent Mutations ◽  
Ring Sideroblasts ◽  
Gene Exon

Abstract Background Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) is a new disease entity in the current WHO classification. Genetically, 60%–90% of cases have mutations in SF3B1, strongly associated with RS, and more than half of them cooccur with JAK2 V617F. This report describes the rare case of MDS/MPN-RS-T with SF3B1 mutation cooccurring with an MPL mutation. Methods We report a 79-year-old man who was referred because of generalized edema. Peripheral blood testing showed macrocytic anemia and thrombocytosis, and bone marrow analysis demonstrated dyserythropoiesis with RS and increased megakaryocytes. A molecular study was performed to detect SF3B1 mutations and recurrent mutations in MPN disease (JAK2 V617F/exon 12, CALR gene exon 9, and MPL gene exon 10 mutations). Results The molecular study revealed SF3B1 K666T and MPL W515R mutations, while BCR-ABL1 or JAK2 V617F/exon 12 and CALR mutations were all negative. Conclusion This is a rare case of concomitant SF3B1 and MPL mutations in MDS/MPN-RS-T.

scholarly journals CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma

2017 ◽  
Vol 18 (3) ◽  
pp. 219-224 ◽  
Author(s):  
Mahmoud R. Fassad ◽  
Asmaa K. Amin ◽  
Heba A. Morsy ◽  
Noha M. Issa ◽  
Nader H. Bayoumi ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Congenital Glaucoma ◽  
Primary Congenital Glaucoma ◽  
Egyptian Patients
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