Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel < b > < i > GPD1 < /i > < /b > Mutation
Conclusion: Our results indicated that the novel homozygous mutation inGPD1 could be the pathogenic factor in the patient. Our report highlights the value of genome sequencing in the diagnosis of infant liver disease with low phenotypic heterogeneity.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - April 6, 2022 Category: Molecular Biology Source Type: research

Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review
Discussion: p.R21Q causes OCNDS. Further studies are highly recommended concerning this mutation to validate the results of this study and expand the knowledge regardingCSNK2A1 and the phenotypic spectrum of OCNDS.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 31, 2022 Category: Molecular Biology Source Type: research

Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family
Conclusion: As our example shows, the parallel occurrence of pathogenic alterations in different genes in the same family constitutes a challenge for the interpretation of WES data and has to be considered. The diagnostic workup illustrates the need for a careful anamnesis and molecular documentation in affected and healthy family members. The knowledge on the different molecular causes underlying the features of the affected family members is the basis for personalised therapeutic managements and can avoid unnecessary burden and even contraindicated therapies; while in patients with NS carryingPTPN11 variants growth hormo...
Source: Molecular Syndromology - March 31, 2022 Category: Molecular Biology Source Type: research

Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of < b > < i > EYA3/EFCAB4b < /i > < /b >
Conclusion: The systematic application of genome techniques to translocations and their advantages is discussed.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 16, 2022 Category: Molecular Biology Source Type: research

Pre- and Postnatal Characterization of Autosomal Recessive < b > < i > KIDINS220 < /i > < /b > -Associated Ventriculomegaly
We present here a 2.5-year-old female with profound global developmental delays and spasticity who was found by fetal ultrasound in week 19 of gestation to have bilateral talipes equinovarus and severe bilateral ventriculomegaly. Postnatal genetic testing revealed biallelic variants inKIDINS220.Discussion: To our knowledge, this is the first living individual reported with the autosomal recessive form of aKIDINS220-associated condition. This case provides additional information about the postnatal phenotype and a detailed history of development from prenatal ultrasonography.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 15, 2022 Category: Molecular Biology Source Type: research

Expanding the Phenotypic Spectrum of < b > < i > HIVEP2 < /i > < /b > -Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature
Conclusion: This report expands the phenotypic spectrum of this rare syndrome and provides deeper insights by comparing the clinical features of our patients with previously reported affected individuals.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 14, 2022 Category: Molecular Biology Source Type: research

Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype
Conclusion: The duplicated region in the patient encompasses 219 genes, 24 considered as pathological. No relation between epilepsy and the genes reported as pathological has been reported.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 10, 2022 Category: Molecular Biology Source Type: research

Novel Pathogenic Variant (c.1171A & #x3e;T) in < b > < i > PHF21A < /i > < /b > in a Female with Intellectual Disability and Craniofacial Anomalies
Conclusion: This case further reinforced and adds to the extended data on the phenotypes associated withPHF21A haploinsufficiency.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 9, 2022 Category: Molecular Biology Source Type: research

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of < b > < i > GALNS < /i > < /b > with Resultant Morquio Syndrome with Two Successful Pregnancies
In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion inGALNS with enzymatic confirmation consistent with Morquio syndrome. To our knowledge, this is the first reported case of this variant. Additionally, we protein modelled wild-type GALNS and the pathogenic variant with an exon 1 deletion for comparative analysis using statistical mechanics methods described herein. We demonstrate that, even when the protein is translated, the mutation would affect protein stability and function via homodimer interaction modifications. Lastly,...
Source: Molecular Syndromology - March 9, 2022 Category: Molecular Biology Source Type: research

Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in < b > < i > TRAPPC9 < /i > < /b > Gene and Literature Review
Conclusion: Although there are inconsistencies in the presentation of ASD inTRAPPC9 mutations, repetitive behaviors (hand-flapping ) were typical in our cases and several previous reports. The current mutation was described to cause a homozygous premature termination codon that resulted in the absence of theTRAPPC9 protein. We suggest thatTRAPPC9 mutations are not only related to ID but also to ASD and hand-flapping behaviors.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 9, 2022 Category: Molecular Biology Source Type: research

A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities
In this study, Sandestig-Stefanova syndrome with a novel pathogenicNUP188 gene variant is presented.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 2, 2022 Category: Molecular Biology Source Type: research

Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient
This report provides more information about the geographic distribution and phenotypic spectrum of DMC. Moreover, it presents a novelDYM variant and insights about DMC pathology that may be associated with the disarrangement of actin filaments.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - March 2, 2022 Category: Molecular Biology Source Type: research

Exome Sequencing Identifies a Novel < b > < i > SIN3A < /i > < /b > Variant in a Patient with Witteveen-Kolk Syndrome
Witteveen-Kolk syndrome (WITKOS; OMIM #613406) is a recently described, rare neurodevelopmental syndrome characterized by mild intellectual disability and a recognizable facial gestalt. WITKOS is caused by heterozygous loss-of-function variants inSIN3A. It shares some features with 15q24 deletion syndrome but to date has only been described in a limited number of patients mostly of Northern European ancestry. Here, we report the first patient with Hispanic ancestry to our knowledge diagnosed with WITKOS, who has a novel, truncating variant in theSIN3A gene. Clinical exome sequencing performed in-house using a custom bioinf...
Source: Molecular Syndromology - February 25, 2022 Category: Molecular Biology Source Type: research

Genetic Landscape of < b > < i > SCN1A < /i > < /b > Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome
This study aimed at investigating the frequency ofSCN1A gene variations in Dravet syndrome (DS) and GEFS+ spectrum phenotype cases and discussing the molecular results in the context of genotype-phenotype correlation.Methods: Fifteen patients diagnosed with DS and 54 patients meeting the GEFS+ spectrum criteria were included in this study. All patients were evaluated by next-generation sequencing and multiplex ligation-dependent probe amplification using anSCN1A gene commercial kit.Results: A total of 17 different variants were detected in 18 index cases (26%), of which 7 were novel variations (p.M1R, p.M147T, p.I767L, p.N...
Source: Molecular Syndromology - February 22, 2022 Category: Molecular Biology Source Type: research

Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review
This study reports the first patient with aPAX6 partial deletion who does not present any eye anomaly thus opening a new set of questions about the functional activity ofPAX6.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 11, 2022 Category: Molecular Biology Source Type: research