Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11
Conclusion: CDG should also be considered in the differential diagnosis of autistic patients with dysmorphic findings. The aim of our study was to emphasize that autism should be listed among the neurological findings of CDG.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - April 21, 2023 Category: Molecular Biology Source Type: research
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile
Conclusion: This is the first time that a genotype-phenotype correlation has been studied by analyzing the variants effect on the molecular structure of human GalN6S and the evolutionary conservation degree of affected residues in a cohort of patients in Chile. Albeit our work could not find statistically significant associations, we may infer that the evolutionary conservations of affected amino acids and the effect of variants on enzyme structure may play a main role. Further analyzes should consider a meta-analysis of published cases with genotype data and larger samples and include other variables that could provide mo...
Source: Molecular Syndromology - April 19, 2023 Category: Molecular Biology Source Type: research
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes
Discussion: This case expands the p.(Arg85Trp) variant-specific phenotype. Possible pathomechanistic explanations for the documented multiorgan involvement and changes of symptoms and signs during development of this ultra-rare but instructive disorder are discussed.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - April 12, 2023 Category: Molecular Biology Source Type: research
Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family
Discussion: This novel de novo variant was predicted to have an effect on splicing, which leads to DMD due to its significant impacts on dystrophin functionality. The novel mutation would be expected to disrupt the protein structure.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 31, 2023 Category: Molecular Biology Source Type: research
A Missense Pathogenic Variant in a Conserved Region of < b > < i > CNTNAP2 < /i > < /b > Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family
Conclusion: This report expands the phenotypic spectrum of this rare syndrome and provides deeper insights by documenting the clinical features and genetic findings of the patients.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 30, 2023 Category: Molecular Biology Source Type: research
Description of Phenotypic Heterogeneity in a < b > < i > GJC2 < /i > < /b > -Related Family and Literature Review
Discussion: Up to now, correlation between HSP andGJC2 variants has been reported once. Here, the second case of SPG44 was identified that emphasizes onGJC2 as a HSP-causing gene. So, the screening ofGJC2 in patients with HSP or HSP-like phenotypes especially with hypomyelination in their brain MRI is recommended. Also, for the first time, intrafamilial phenotypic heterogeneity for “two distinctGJC2-related phenotypes: HLD2 and HSP ” was reported. Such intrafamilial phenotypic heterogeneity forGJC2 can emphasize on the shared pathophysiology of these disorders.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 30, 2023 Category: Molecular Biology Source Type: research
Recurrent Mutation (p.Arg718Pro) in the < b > < i > COMP < /i > < /b > Gene with Clinical Heterogeneity of Pseudoachondroplasia
We report on the first Mexican patient diagnosed with PSACH. The diagnosis was confirmed by identifying a recurrent heterozygous mutation c.2153G#x3e;C (p.Arg718Pro) in theCOMP gene using whole-exome sequencing.Discussion: The anterior spindle-shaped vertebral bodies and severe short stature are not observed in patients carrying p.Arg718Pro, identifying another amino acid site associated with clinical heterogeneity. Reporting new cases with clinical heterogeneity in terms of phenotype plays a crucial role in understanding PSACH and MED pathogenesis. The most important aspect of this presentation is providing a new perspect...
Source: Molecular Syndromology - March 29, 2023 Category: Molecular Biology Source Type: research
X-Linked Hydrocephalus with New < b > < i > L1CAM < /i > < /b > Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features
Conclusion: This report adds knowledge of novel pathogenic variants to theL1CAM variant database. Furthermore, we evaluated the clinical and imaging data of these patients.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 28, 2023 Category: Molecular Biology Source Type: research
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy
Conclusion: We present diagnostic rates of a complementary approach to genetic analysis (CMA, CES, and WES). The combined use of genetic analysis methods in unexplained ID/DD and/or ASD cases has contributed significantly to diagnosis rates. Also, we present detailed clinical characteristics to improve genotype-phenotype correlation in the literature for rare and novel variants.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 14, 2023 Category: Molecular Biology Source Type: research
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature
We describe two patients with variants in theDPAGT1 gene: an 8-month-old boy with a homozygous, missenseDPAGT1:c.339T#x3e;G (p.Phe113Leu) novel variant and a 13-year-old female patient with compound heterozygous variants,DPAGT1:c.466C#x3e;T (p.Arg156Cys, R156C) andDPAGT1:c.161+5G#x3e;A. While the 8-month-old patient was diagnosed with congenital cataract at the age of 1 month, had dysmorphic findings, and epilepsy, clinical symptoms in the other patient appeared later but with more prominent muscle weakness, behavioral disorder, dysmorphic findings, and no epilepsy.Discussion: Cholinesterase inhibitor therapy was found to ...
Source: Molecular Syndromology - March 8, 2023 Category: Molecular Biology Source Type: research
Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies
We report the clinical and cytogenomic characterization of a 5-year-old boy with intellectual disability, psychomotor retardation, craniofacial dysmorphism, genital anomalies, and pure interstitial trisomy 11q arising from a nonrecurrent 11q13.1q22.3 intrachromosomal duplication in a high-mosaic state (#x3e;80%). The duplicated chromosome was characterized by cytogenetics, multicolor banding FISH, and SNP array. We demonstrated the wide mosaic distribution of the 11q duplication by interphase FISH in tissues from different embryonic germ layers. The duplication involves a copy number gain of 45.3 Mb containing 22 dosage-se...
Source: Molecular Syndromology - March 1, 2023 Category: Molecular Biology Source Type: research
Mutated Transcripts of < b > < i > ZEB2 < /i > < /b > Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome
Conclusion:ZEB2 encodes a multifunctional pleiotropic protein. Novel mutations inZEB2 should be reported in order that genotype-phenotype correlations might be established in this clinically heterogeneous syndrome. Further cDNA and protein studies may help elucidate the underlying pathogenetic mechanisms of MWS since nonsense-mediated RNA decay was found to be absent in only a few studies including this study.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 20, 2023 Category: Molecular Biology Source Type: research
