Contents Vol. 11, 2020
Mol Syndromol 2020;11:I –VI (Source: Molecular Syndromology)
Source: Molecular Syndromology - December 18, 2020 Category: Molecular Biology Source Type: research
The Role of Copy Number Variations and < b > < i > FHIT < /i > < /b > Gene on Phenotypic Characteristics of Cases Diagnosed with Autism Spectrum Disorder
In this study, we aimed to present the clinical characteristics of the cases and parents in more detail, especially in pathogenic CNV cases, which enables us to increase our knowledge on inherited CNVs and genotype-phenotype correlation. We suggest that both genetic and psychiatric evaluation of the parents of the cases is important for better understanding the clinical relevance of the CNV results.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - December 16, 2020 Category: Molecular Biology Source Type: research
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis
Acromelic frontonasal dysostosis (AFND; MIM #603671) is a rare autosomal dominant genetic disorder caused by a heterozygous mutation in theZSWIM6 (KIAA1577) gene located at chromosome 5q12.1. It is phenotypically characterized by frontonasal malformation with hypertelorism, telecanthus, nasal clefting or bifid nasal tip, wide fontanels and sutures, brachycephaly, and cleft palate. The patients also present with central nervous system malformations such as encephalocele, agenesis of the corpus callosum, or interhemispheric lipoma. Limb malformations can also be found, including preaxial polydactyly of the feet and sometimes...
Source: Molecular Syndromology - December 15, 2020 Category: Molecular Biology Source Type: research
Language Impairment with a Partial Duplication of < b > < i > DOCK8 < /i > < /b >
We report in detail the cognitive and language features of a child with a duplication in the 9p24.3 region, arr[hg19] 9p24.3(266,045 –459,076)×3. The proband exhibits marked expressive and receptive problems, which affect both structural and functional aspects of language. These problems might result from a severe underlying deficit in working memory. Regarding the molecular causes of the observed symptoms, they might result f rom the altered expression of selected genes involved in procedural learning, particularly some of components of the SLIT/ROBO/FOXP2 network, strongly related to the development and evolution of l...
Source: Molecular Syndromology - December 11, 2020 Category: Molecular Biology Source Type: research
Dystonia and Contractures are Potential Early Signs of < b > < i > CACNA1E < /i > < /b > -Related Epileptic Encephalopathy
In conclusion, the appearance of congenital contractures, areflexia, and movement disorders before the onset of epilepsy may provide key guidance in the diagnosis of epilepticCACNA1E encephalopathy. A genotype-phenotype correlation was found between the presence of movement disorders and severe intellectual disability and the location of the variant in theCACNA1E gene.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - December 10, 2020 Category: Molecular Biology Source Type: research
Expanding the Phenotype of < b > < i > TUBB2A < /i > < /b > -Related Tubulinopathy: Three Cases of a Novel, Heterozygous < b > < i > TUBB2A < /i > < /b > Pathogenic Variant p.Gly98Arg
We report 3 patients identified by exome and genome sequencing to have a novel, pathogenic, missense variant inTUBB2A (p.Gly98Arg). They presented similarly with intellectual disability, hypotonia, and global developmental delay and varied with respect to the type of cortical brain malformation, seizure history, diagnosis of autism spectrum disorder, and other features. This case series expands the natural history ofTUBB2A-related tubulinopathy while describing the presentation of a novel, pathogenic, missense variant in 3 patients.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - December 9, 2020 Category: Molecular Biology Source Type: research
Chromothripsis and Duplications as Underappreciated Genomic Gremlins
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - December 7, 2020 Category: Molecular Biology Source Type: research
A Frameshift Variant in < b > < i > KIAA0825 < /i > < /b > Causes Postaxial Polydactyly
Postaxial polydactyly (PAP) is characterized by counterproductive 5th digit (pinky finger) duplication on hands and/or feet which often leads to functional complications. To date, at least 11 genes involved in causing various types of nonsyndromic polydactylies have been reported. In the present study, a consanguineous family of Sindhi origin with a segregating nonsyndromic form of PAP in an autosomal recessive manner was clinically and genetically evaluated. Genotyping, using polymorphic microsatellite markers, established linkage in the family on chromosome 5q15 harboring theKIAA0825 gene (MIM 617266). Sequence analysis ...
Source: Molecular Syndromology - December 3, 2020 Category: Molecular Biology Source Type: research
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report
Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder with a variable clinical phenotype including synophrys, hypertelorism, thick eyebrows, long eyelashes, wide nasal bridge, long philtrum, hypertrichosis, growth retardation, and intellectual disability. Cornelia de Lange syndrome (CdLS) is a rare disease characterized by synophrys, long eyelashes, limb abnormalities, generalized hirsutism, growth retardation, and intellectual disability. In both WDSTS and CdLS, the malformations are due to transcriptome disturbance caused by defects in the genes encoding the components of chromatin regulation and trans...
Source: Molecular Syndromology - December 1, 2020 Category: Molecular Biology Source Type: research
Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature
Floating-Harbor syndrome (FHS) is a rare autosomal dominant genetic disorder characterized by proportionate short stature with delayed bone maturation, lack of expressive language, and distinctive facial features including a large nose, long eyelashes, deeply set eyes, and triangular face. Mutations in theSRCAP gene cause truncated SNF2-related CREBBP activator protein (SRCAP) and lead to FHS. SRCAP is one of several proteins that act as coactivator for the CREB-binding protein which is associated with Rubinstein-Taybi syndrome (RSTS). This condition likely explains the phenotypic overlap between FHS and RSTS. Herein, we r...
Source: Molecular Syndromology - November 30, 2020 Category: Molecular Biology Source Type: research
Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome
In this study, we aimed to evaluate the clinical features and molecular analysis results of 4 MWS patients. All patients were examined by an expert clinical geneticist. Dysmorphological abnormalities were recorded. Data including demographic, clinical, and laboratory findings were obtained from hospital records.ZEB2 gene analysis was performed using a Sanger sequencing method. All patients had typical facial features of MWS such as widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes. Four different heterozygous mutations were...
Source: Molecular Syndromology - November 20, 2020 Category: Molecular Biology Source Type: research
Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association
In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, th...
Source: Molecular Syndromology - November 11, 2020 Category: Molecular Biology Source Type: research
A Case of UDP-Galactose 4 ′-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway
We report a 2-year-old child compound heterozygous for GALE p.R51W/p.G237D who never developed symptoms of classic galactosemia but has a history of congenital combined mitral and tricuspid valve malformation and pyloric stenosis, and presented with pancytopenia. Variant pathogenicity was supported by predictive computational tools and decreased GALE activity measured in erythrocytes. GALE function e xtends to the biosynthesis of glycans by epimerization of UDP-N-acetyl-galactosamine and -glucosamine. Interrogation of the Gene Ontology consortium database revealed several putative proteins involved in normal hematopoiesis ...
Source: Molecular Syndromology - October 29, 2020 Category: Molecular Biology Source Type: research
Fanconi Anemia: A Syndrome of Anemia and Skeletal Malformations Progressing to a Gene Network Involved in Genomic Stability and Malignant Disease
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - October 22, 2020 Category: Molecular Biology Source Type: research
Publisher's Note
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - October 19, 2020 Category: Molecular Biology Source Type: research
