Publications by authors named "M Tzetis"
Cystic fibrosis (CF) is a hereditary disease with great genetic complexity as not all mutations are disease-causing and genotype doesn't always predict phenotype. This case involves a child with CF and genotype F508del/CFTRdup1_11. The CFTRdup1_11 duplication was not reported previously, and genetic counseling was based on reports describing the clinical course of people carrying smaller duplications of the same area combined with F508del.
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- * In a study involving 1,600 patients with neurodevelopmental disorders, 15 patients (0.9%) were found to have recurrent 16p11.2 rearrangements, including 13 deletions and two duplications, affecting different parts of the region.
- * The clinical features and severity of symptoms in these patients showed significant variation, highlighting the need for better understanding and counseling for affected families.
Article Synopsis
- * A study conducted between 2018 and now involved Whole Exome Sequencing of 19 patients, mainly children, leading to genetic diagnoses of AS types including X-linked and autosomal forms.
- * Early genetic diagnosis allows for prompt treatment and monitoring, especially crucial for children, helping to prevent progression to chronic kidney disease.
Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.
Am J Med Genet A
December 2024
Nablus mask-like facial syndrome (NMLFS) is a rare condition characterized by unique facial features, initially described in a 4-year-old boy from Nablus, Palestine. These features include expressionless facial appearance, tight facial skin, blepharophimosis, sparse eyebrows, and a flat nose. Genetic studies have identified a deletion of 8q22.
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- Persistent hyperCKemia, a condition related to muscle dysfunction, is often linked to genetic mutations in muscle-related genes, particularly the dystrophin gene.
- A study analyzed medical records of 1354 cases from 1996-2021, identifying 730 individuals with significant genetic alterations and estimating the incidence of dystrophinopathy at roughly 1 in 3800 live male births, predominantly among Greek and Albanian populations.
- The findings reveal that around 50% of hyperCKemia cases are usually due to dystrophinopathies, emphasizing the importance of understanding genetic diversity for public health strategies and ethical considerations in treatment, especially for asymptomatic individuals.