Publications by authors named "Erdal Fırat Caralan"
Article Synopsis
- A 6-year-old girl with growth and blood disorders was found to have a specific genetic mutation linked to a potential new hereditary bone marrow failure syndrome.
- Whole-exome analysis identified a homozygous variant in a gene associated with the Ras-MAPK pathway, which is known to cause RASopathies—a group of genetic diseases with similar symptoms like growth delays and facial features.
- The study suggests that this mutation may disrupt protein interactions, likely contributing to the girl's unique clinical symptoms, and proposes this gene as a promising candidate for further research into RASopathies.
Background: Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNH-associated FLNA mutations are female whereas liveborn males with FLNA mutations are very rare. Fetal viability of the males seems to depend on the severity of the variant.
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