Differential Expression of Long Noncoding RNAs in Patients with Coronary Artery Disease
Long noncoding RNAs (lncRNAs) constitute the largest class of noncoding RNAs and play significant roles in the development of cardiovascular pathologies. In the present study, we aimed to evaluate whether 4 candidate lncRNAs – MIAT, MEG3, MALAT1, and MCM3AP-AS1 – have distinct expression levels in patients with obstructive coronary artery disease (CAD) and reveal the diagnostic and therapeutic potentials of these lncRNAs for CAD. A total of 90 patients who subjected to coronary angiography were enrolled. Relative ex pression of lncRNAs were assayed using qRT-PCR methodology. As a result,MIAT was downregulated, whileMEG...
Source: Molecular Syndromology - August 26, 2021 Category: Molecular Biology Source Type: research
Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis
Uni- or bilateral renal agenesis (RA) is a commonly occurring major congenital anomaly impacting fetal and neonatal outcomes. Since the etiology is highly heterogeneous, our aim was to provide a logically structured approach by highlighting the genes in which variants have been identified to be associated with RA and to define the pathways involved in this type of abnormal kidney development. We used Phenolyzer to collect a list of all the genes known as causative for RA. Using ClueGO gene enrichment analysis, we classified the relationship between these genes and the biological processes defined by gene ontology. We ident...
Source: Molecular Syndromology - August 26, 2021 Category: Molecular Biology Source Type: research
Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency
This report expands on the underlying causes of intracranial calcifications and suggests that 3-MCC deficiency may have intracranial calcifications on bilateral thalamus and periventricular white matters. If clinical findings show intracranial calcification, 3-MCC deficiency should also be kept in mind.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - August 26, 2021 Category: Molecular Biology Source Type: research
Variants in the < b > < i > PNPLA1 < /i > < /b > Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance
The term autosomal recessive congenital ichthyosis (ARCI) is the subgroup of ichthyosis, which describes a highly heterogeneous group of genetic disorders of the skin characterized by cornification and defective keratinocytes differentiation associated with mutations in at least 14 genes includingPNPLA1. To study the molecular basis of the Pakistani kindreds (A and B) affected by ARCI, whole-exome sequencing (WES) in the DNA samples of affected members was performed followed by Sanger sequencing of the candidate gene to hunt down the disease-causing sequence variant/s. WES data analysis led to the identification of a novel...
Source: Molecular Syndromology - August 24, 2021 Category: Molecular Biology Source Type: research
Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients
Turner syndrome (TS) is one of the most common malformation syndromes in females. A total number of 107 TS patients, diagnosed between 2000 and 2018, were evaluated for their phenotypic features, and cardiac and renal findings. The mean age of patients at admission was 10.08 ± 4.9 years (range, newborn to 18 years). Four different karyotype groups were encountered, and the most common findings in all groups were short stature, followed by cubitus valgus. Echocardiographic findings of 85 patients were available among which 63 (n = 63/85, 74.1%) were found to be normal. The most common cardiac anomaly was left ventricular o...
Source: Molecular Syndromology - August 12, 2021 Category: Molecular Biology Source Type: research
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous < b > < i > CANT1 < /i > < /b > Mutations
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 theCANT1 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 v...
Source: Molecular Syndromology - July 22, 2021 Category: Molecular Biology Source Type: research
239-kb Microdeletion Spanning < b > < i > KMT2E < /i > < /b > in a Child with Developmental Delay: Further Delineation of the Phenotype
PathogenicKMT2E variants underly Oapos;Donnell-Luria-Rodan syndrome, a recently described neurodevelopmental disorder characterized by global developmental delay, variable degrees of intellectual disability, and subtle facial dysmorphism. Less common findings include autism, seizures, gastrointestinal (GI) problems, and abnormal head circumference. Occurrence of mostly truncating variants as well as the similar phenotype observed in individuals with deletions spanningKMT2E suggest haploinsufficiency of this gene as a common mechanism for the disorder, while a gain-of-function or dominant-negative effect cannot be ruled out...
Source: Molecular Syndromology - July 22, 2021 Category: Molecular Biology Source Type: research
A Novel Homozygous < b > < i > ALG12 < /i > < /b > Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype
Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases caused by the deficiency of enzymes involved in the biosynthesis or remodeling of the glycan moieties of glycoconjugates. Most of CDG are autosomal recessive; however, few of them show autosomal dominant or X-linked inheritance. ALG12-CDG is an autosomal recessive inherited defect caused by a deficiency in the α-mannosyltransferase, dolichyl-P-mannose: Man7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase (mannosyltransferase 8), which determines Man7GlcNAc2-PP-dolichol accumulation in tissues including fibroblasts. The clinical features of A...
Source: Molecular Syndromology - July 20, 2021 Category: Molecular Biology Source Type: research
Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy
Individuals with 3p deletion show a great clinical variability. Apparently, a 1.5-Mb terminal deletion, including theCRBN andCNTN4 genes, is sufficient to cause this syndrome. Partial trisomy 13q is a rare chromosomal abnormality with a variable phenotypic expression, but in most cases, patients have a phenotype resembling complete trisomy 13. The aim of the present study is to describe a 9-month-old Mexican male patient with 3p deletion/13q duplication and a novel clinical finding. He presented with facial dysmorphism and multiple congenital alterations. Echocardiogram revealed cardiac insufficiency with hypertrophic card...
Source: Molecular Syndromology - July 20, 2021 Category: Molecular Biology Source Type: research
A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel < b > < i > FBXL4 < /i > < /b > Variant
This report shows that patients withFBLX4 gene mutations may present with a milder clinical phenotype than previously reported.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - July 19, 2021 Category: Molecular Biology Source Type: research
An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son
This study aimed to better define the clinical history and prognosis of a patient with this rare category of chromosomal aberration. Our results suggest that the frequency of CCR in the general population may be underestimated; when balanced, they may not have a phenotypic effect. Moreover, they emphasize the need for cytogenetic techniques complementary to chromosomal microarray for proper genetic counseling.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - July 15, 2021 Category: Molecular Biology Source Type: research
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome
A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. Clinical suspicion prompted genetic investigations for Silver-Russell syndrome and related disorders. SNP array analysis led to the diagnosis of an approximately 10-Mb large deletion of the long arm in chromosome 16q22.2q23.3. Interstitial deletions of 16q show a wide variability of related features; however, considering the differences in size and location of the deletions in the known patients, the p...
Source: Molecular Syndromology - July 15, 2021 Category: Molecular Biology Source Type: research
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel < b > < i > EFNB1 < /i > < /b > Gene Mutation
Craniofrontonasal syndrome (CFNS) is a rare X-linked genetic disorder which is characterized by coronal synostosis, widely spaced eyes, a central nasal groove, and various skeletal anomalies. Mutations in theEFNB1 gene in Xq13.1 are responsible for familial and sporadic cases. In the present study, we aimed to evaluate the clinical characteristics and molecular results of 4 patients with CFNS. Genomic DNA was extracted from the peripheral blood lymphocytes of all patients and their parents, and Sanger sequencing of theEFNB1 gene was performed. A novelEFNB1 gene mutation (c.65delG; p.Cys22SerfsTer24) was detected in a newbo...
Source: Molecular Syndromology - July 12, 2021 Category: Molecular Biology Source Type: research
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Source: Molecular Syndromology - June 30, 2021 Category: Molecular Biology Source Type: research
Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C & #x3e;T in the < b > < i > ATM < /i > < /b > Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family
Pathogenic and likely pathogenic variants in theATM gene are associated both with Ataxia-telangiectasia disease or ATM syndrome and an increased cancer risk for heterozygous carriers. We identified a novel compound heterozygous mutation c.3955_3958dup (p.Asp1320delinsValTer) and c.5825C#x3e;T (p.Ala1942Val) in theATM gene in a Peruvian patient with progressive ataxia combined with other movement disorders, mild conjunctival telangiectasia and increased alpha-fetoprotein, without history of recurrent infection or immunodeficiency. We also determined the carrier status of the family members, and we were able to detect gastri...
Source: Molecular Syndromology - June 17, 2021 Category: Molecular Biology Source Type: research
