Molecular Syndromology This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1 
We report in detail on the cognitive, language, and genetic features of a girl bearing a small deletion (0.186 Mb) in the 2p16.3 region, arr[hg19] 2p16.3(50761778_50947729) ×1, affecting exons 3–7 ofNRXN1, a neurexin-coding gene previously related to schizophrenia, autism (ASD), attention deficit hyperactivity disorder (ADHD), mood disorder, and intellectual disability (ID).Results: The proband exhibits many of the features commonly found in subjects with deletions ofNRXN1, like ASD-like traits (including ritualized behaviors, disordered sensory aspects, social disturbances, and impaired theory of mind), ADHD symptoms, ...
Source: Molecular Syndromology - June 14, 2022 Category: Molecular Biology Source Type: research

 COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus
Conclusion: Most prenatal diagnoses of RDEB are the result of targeted molecular analyses carried out based on family history, and prenatal ultrasound reports of severe RDEB phenotypes are extremely rare. Our case suggests that the observation of abnormal epidermal lines should be given due consideration during prenatal diagnosis, as they may be a sign of possible epidermolysis bullosa.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - June 14, 2022 Category: Molecular Biology Source Type: research

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel
Conclusion: Similarities and connections with other mendelian disorders of the epigenetic machinery are highlighted, confirming SBIDDS ′ enrolment as a new spoke of the epigenetic machinery wheel.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - June 7, 2022 Category: Molecular Biology Source Type: research

Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p
This report demonstrates the utility of genomic arrays as a diagnostic tool to better characterize atypical deletions in known syndromes such as 5p– syndrome, which will allow a better understanding of the genotype-phenotype correlations.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - May 18, 2022 Category: Molecular Biology Source Type: research

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions
Discussion: 3M syndrome should be considered in the differential diagnosis of patients with short stature and typical facial features even if in the presence of other inconsistent features such as developmental delay. In addition, it is important to take into account the co-occurrence of rare autosomal recessive genetic disorders especially in countries with a high consanguineous marriage rate.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - May 18, 2022 Category: Molecular Biology Source Type: research

Hydrocephalus and Growth Retardation: A Fetal RNU4ATAC -opathy Missed by Whole-Exome Sequencing
Discussion: Our study highlights the limitation of WES. WGS might be a clinical option for patients who have a structurally abnormal fetus tested negative by WES.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - May 9, 2022 Category: Molecular Biology Source Type: research

Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder
Discussion: TruncatingCASK variants may be associated with CHD, even in a mosaic state, and even a low normal allele ratio could lengthen survivorship.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - May 5, 2022 Category: Molecular Biology Source Type: research

Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature
Conclusion: We propose a model for the tertiary structure of USP53 for the first time, and together with all these data, we support the association of biallelic variants of theUSP53 gene with cholestasis phenotype. We also present a comparison of previously reported patients withUSP53-associated cholestasis phenotype to contribute to the literature.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - April 28, 2022 Category: Molecular Biology Source Type: research

Gene Mutations in Cushing ’s Syndrome
Background: Prolonged exposure to glucocorticoids can result in the development of Cushing ’s syndrome. Excess serum cortisol can occur due to several factors including exogenous steroids, pituitary and adrenal adenoma, and ectopic ACTH secretion.Summary: The last 2 decades have seen significant progress in identifying new genetic and molecular mechanisms underlying hypercortisolemia. This has implicated mutations seen in a multitude of aberrant pathways that underpin the pathophysiology of Cushing ’s syndrome.Key Messages: There is much overlap between the different, with mutations affecting well-understood molecular ...
Source: Molecular Syndromology - April 27, 2022 Category: Molecular Biology Source Type: research

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2 -Related Disorders and Implications in Cerebellar Anomalies
Conclusion: Phenotype analysis and a comprehensive review of the literature strongly support the previously published data and corroborate the evidence that heterozygousPIEZO2-related disorders represent a continuum with overlapping phenotypic features.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - April 27, 2022 Category: Molecular Biology Source Type: research

Co-Occurring Atypical Galactosemia and Wilson Disease
Conclusion: Coexistences of rare genetically transmitted diseases can be seen in countries where consanguineous marriages are common (Saudi Arabia, Iran, Pakistan, etc.), as in our country, Turkey.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - April 27, 2022 Category: Molecular Biology Source Type: research

First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature
Conclusion/Discussion: In the array-CGH analysis, a 15.7-Mb deletion, arr[hg19] 13q22q31.3(78,241,132_93,967,288) ×1, was detected, and this alteration was evaluated to be pathogenic. The deletion of this region covering theMIR17HG gene is a potential cause of FGLDS2. Also, at her clinical exome sequencing study, a heterozygous c.2023G#x3e;A p.(Gly675Ser) variation was detected in theCOL4A5 gene (NM_000495.4) that was likely pathogenic in up-to-date databases. As a result, we report on a patient who has FGLDS2 and Alport syndrome. This is the first report of a Turkish-origin FGLDS2 patient. Reporting new cases expands the...
Source: Molecular Syndromology - April 27, 2022 Category: Molecular Biology Source Type: research

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes
Conclusion: Detection and reporting of novel variants is an important step in eliminating this disorder by providing families with appropriate genetic counseling.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - April 27, 2022 Category: Molecular Biology Source Type: research

Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia
Conclusion: This report highlights a severe perinatal lethal phenotype due to biallelic variants in a gene hitherto known to cause an autosomal dominant disorder.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - April 26, 2022 Category: Molecular Biology Source Type: research

Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome
We report a case of a 12-year-5-month-old girl with the clinical features of CSS, severe scoliosis, and epilepsy. Growth hormone deficiency was diagnosed at the age of 9 years. Recombinant human growth hormone (rhGH) treatment was started that resulted in a significant improvement of the growth velocity up to 5.4 cm/year (#x3e;90-97th centile). Next-generation sequencing identified a mutation in theARID1B gene.Discusion: Despite its phenotypic heterogeneity, key features of CSS have become clearer and along with molecular diagnosis, a further global approach to improve the care of these individuals is enabled. Appropriate ...
Source: Molecular Syndromology - April 8, 2022 Category: Molecular Biology Source Type: research