Publications by authors named "Kubra Adanur Saglam"
Article Synopsis
- - SGSM proteins are small modulators that interact with proteins in the RAS signaling pathway and are highly expressed in the brain during different developmental stages.
- - The SGSM3 gene, initially linked to intellectual disability (ID) in Ashkenazi Jewish families, has a newly identified harmful variation found in two siblings with ID and short stature.
- - The identification of bi-allelic loss-of-function variants in SGSM3 across diverse populations suggests its role as a candidate gene for nonsyndromic ID, necessitating further studies to understand how these gene variations impact neuron function and related signaling pathways.
Article Synopsis
- Peroxisome biogenesis disorders (PBDs) include various diseases with diverse symptoms like developmental delays, hearing loss, and liver issues, linked to genetic mutations affecting peroxisome function.* -
- A patient was studied using whole-exome sequencing to identify genetic causes behind their clinical symptoms, which included developmental delays and organ enlargement, but no single-nucleotide mutations were found.* -
- However, a homozygous deletion in exon 4 of the gene was identified, affecting the protein's transmembrane domain, which is crucial for normal cellular processes and peroxisome function.*
Big data generated from exome sequencing (ES) and genome sequencing (GS) analyses can be used to detect actionable and high-penetrance variants that are not directly associated with the primary diagnosis of patients but can guide their clinical follow-up and treatment. Variants that are classified as pathogenic/likely pathogenic and are clinically significant but not directly associated with the primary diagnosis of patients are defined as secondary findings (SF). The aim of this study was to examine the frequency and variant spectrum of cancer-related SF in 2020 Turkish ES data and to discuss the importance of the presence of cancer-related SF in at-risk family members in terms of genetic counseling and follow-up.
View Article and Find Full Text PDFGlycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated pregnancy with polyhydramnios. During her stay in the neonatal unit, the infant remained dependent on a ventilator, and her movements were mostly absent, except for occasional small movements of her fingers.
View Article and Find Full Text PDFTurnpenny-Fry syndrome is a very rare genetic disorder characterized by intellectual disability, developmental delay, facial dysmorphism, and skeletal abnormalities. Mutations of the PCGF2 gene are responsible for Turnpenny-Fry syndrome. This gene encodes the polycomb group ring finger 2 protein that is broadly expressed in various human tissues.
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